T7510C

# **General Information**

| **Position** | **7510** | **Variant** | **m.7510T\>C** | **Locus** | **MT\-TS1** | **RNA** | **tRNA Ser (UCN)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[LP] |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.7510T\>C** variant in MT\-TS1 has been reported in 5 pedigrees. To date, 67 carriers have been reported. Homoplasmy was reported in 39/67 carriers (58\.2%), and 59/67 carriers (88\.1%) were affected. The main clinical manifestations among affected carriers included hearing loss, postural hand tremor, sensorineural hearing impairment, ataxia, cognitive delay progressing to intellectual disability, diminished deep tendon reflexes, flexor plantar responses., hand clumsiness, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7510 | m.7510T\>C |[ T7510C\-F1](https://mitofam.com/doc/765/) | UK | Hearing loss | 1 | 11 | 2000 | [10978361](https://pubmed.ncbi.nlm.nih.gov/10978361/) |  |
| 2 | 7510 | m.7510T\>C | [T7510C\-F2](https://mitofam.com/doc/766/) | Spain | Hearing loss | 4 | 21 | 2002 | [12471220](https://pubmed.ncbi.nlm.nih.gov/12471220/) |  |
| 3 | 7510 | m.7510T\>C | [T7510C\-F3](https://mitofam.com/doc/767/) | USA | Hearing loss | 0 | 15 | 2008 | [18028453](https://pubmed.ncbi.nlm.nih.gov/18028453/) |  |
| 4 | 7510 | m.7510T\>C |[ T7510C\-F4](https://mitofam.com/doc/768/) | Hungary | Hearing loss | 1 | 4 | 2013 | [23430555](https://pubmed.ncbi.nlm.nih.gov/23430555/) |  |
| 5 | 7510 | m.7510T\>C |[ T7510C\-F5 ](https://mitofam.com/doc/769/)| Finland | Hearing loss, complex neurologic phenotype | 2 | 3 | 2017 | [29299381](https://pubmed.ncbi.nlm.nih.gov/29299381/) |  |

# **Carrier Information**

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-I1 | Uninf | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 2 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-II2 | Fam | F | N | Y | D | 70 | / | / | / | / | Hearing loss |  |
| 3 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-II4 | Fam | F | N | Y | D | ND | / | / | / | / | Hearing loss |  |
| 4 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-II6 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 5 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-III1 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 6 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-III3 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 7 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-III6 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 8 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-III7 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 9 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-III9 | Fam | F | N | Y | A | ND | 90% | / | / | / | Hearing loss |  |
| 10 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-IV4 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 11 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-IV5 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 12 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-IV6 | Fam | M | Y | Y | A | 15 months | \>95% | / | / | / | Hearing loss |  |
| 13 | 7510 | m.7510T\>C | T7510C\-F1 | T7510C\-F1\-IV7 | Fam | F | N | Y | A | ND | \>95% | / | / | / | Hearing loss |  |
| 14 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-III4 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 15 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-III5 | Fam | M | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 16 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-III7 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 17 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-III8 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 18 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-III9 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 19 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-III11 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 20 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-III15 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 21 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-III17 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 22 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV1 | Fam | M | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 23 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV2 | Fam | M | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 24 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV3 | Fam | F | Y | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 25 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV4 | Fam | M | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 26 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV5 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 27 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV7 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 28 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV9 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 29 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV11 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 30 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV12 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 31 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV16 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 32 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV18 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 33 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV19 | Fam | M | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 34 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV20 | Fam | M | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 35 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-V1 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 36 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-V2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 37 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-V3 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 38 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-V4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 39 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-V5 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 40 | 7510 | m.7510T\>C | T7510C\-F3 | T7510C\-F3\-I2 | Uninf | F | N | Y | D | ND | / | / | / | / | Hearing loss |  |
| 41 | 7510 | m.7510T\>C | T7510C\-F3 | T7510C\-F3\-II2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 42 | 7510 | m.7510T\>C | T7510C\-F3 | T7510C\-F3\-II3 | Fam | F | N | Y | D | ND | / | / | / | / | Hearing loss |  |
| 43 | 7510 | m.7510T\>C | T7510C\-F3 | T7510C\-F3\-II4 | Fam | M | N | Y | D | ND | / | / | / | / | Hearing loss |  |
| 44 | 7510 | m.7510T\>C | T7510C\-F3 | T7510C\-F3\-II5 | Fam | M | N | Y | D | ND | / | / | / | / | Hearing loss |  |
| 45 | 7510 | m.7510T\>C | T7510C\-F3 | T7510C\-F3\-II6 | Fam | F | N | Y | D | ND | / | / | / | / | Hearing loss |  |
| 46 | 7510 | m.7510T\>C | T7510C\-F3 | T7510C\-F3\-III2 | Fam | F | Y | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 47 | 7510 | m.7510T\>C | T7510C\-F3 | T7510C\-F3\-III3 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 48 | 7510 | m.7510T\>C | T7510C\-F3 | T7510C\-F3\-III4 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 49 | 7510 | m.7510T\>C | T7510C\-F3 | T7510C\-F3\-III5 | Fam | M | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 50 | 7510 | m.7510T\>C | T7510C\-F3 | T7510C\-F3\-III7 | Fam | M | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 51 | 7510 | m.7510T\>C | T7510C\-F3 | T7510C\-F3\-III9 | Fam | M | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 52 | 7510 | m.7510T\>C | T7510C\-F3 | T7510C\-F3\-IV1 | Fam | M | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 53 | 7510 | m.7510T\>C | T7510C\-F3 | T7510C\-F3\-IV2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 54 | 7510 | m.7510T\>C | T7510C\-F3 | T7510C\-F3\-IV3 | Fam | M | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 55 | 7510 | m.7510T\>C | T7510C\-F3 | T7510C\-F3\-IV4 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 56 | 7510 | m.7510T\>C | T7510C\-F4 | T7510C\-F4\-I2 | Uninf | F | N | Y | D | \<30 | / | / | / | / | Hearing loss |  |
| 57 | 7510 | m.7510T\>C | T7510C\-F4 | T7510C\-F4\-II2 | Fam | F | N | Y | A | 20 | Homo | / | / | / | Hearing loss |  |
| 58 | 7510 | m.7510T\>C | T7510C\-F4 | T7510C\-F4\-II3 | Fam | F | N | Y | A | 20 | / | / | / | / | Hearing loss |  |
| 59 | 7510 | m.7510T\>C | T7510C\-F4 | T7510C\-F4\-III2 | Fam | F | N | Y | A | 20 | Homo | / | / | / | Hearing loss |  |
| 60 | 7510 | m.7510T\>C | T7510C\-F4 | T7510C\-F4\-IV1 | Fam | M | Y | Y | A | 5 | Homo | / | / | / | Hearing loss |  |
| 61 | 7510 | m.7510T\>C | T7510C\-F4 | T7510C\-F4\-IV2 | Fam | F | N | N | A | 3 | / | / | / | / | Healthy |  |
| 62 | 7510 | m.7510T\>C | T7510C\-F5 | T7510C\-F5\-I2 | Uninf | F | N | Y | A | 70 | 90% | / | / | / | Postural hand tremor, restless legs syndrome, ataxia, hearing loss |  |
| 63 | 7510 | m.7510T\>C | T7510C\-F5 | T7510C\-F5\-II2 | Fam | F | N | Y | A | \<10 | \>\=99% | / | / | \>\=99% | Hearing loss, mild ataxia |  |
| 64 | 7510 | m.7510T\>C | T7510C\-F5 | T7510C\-F5\-II3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 65 | 7510 | m.7510T\>C | T7510C\-F5 | T7510C\-F5\-II4 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 66 | 7510 | m.7510T\>C | T7510C\-F5 | T7510C\-F5\-III1 | Fam | M | N | Y | A | 20 | \>\=99% | / | / | / | Hearing loss |  |
| 67 | 7510 | m.7510T\>C | T7510C\-F5 | T7510C\-F5\-III2 | Fam | F | Y | Y | A | 6 | \>\=99% | \>\=99% | / | / | Sensorineural hearing impairment, mild motor skill delay, light\-sensitive generalized epilepsy with absence seizures, motor clumsiness, diminished deep tendon reflexes, cognitive delay progressing to intellectual disability, short stature, mildly ataxic gait, hand clumsiness, flexor plantar responses. |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).