C7462T

# **General Information**

| **Position** | **7462** | **Variant** | **m.7462C\>T** | **Locus** | **MT\-TS1** | **RNA** | **tRNA Ser (UCN)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 11\.20% | **Pathogenicity** | Reported \[VUS] |

"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.7462C\>T** variant in MT\-TS1 has been reported in 3 pedigrees. To date, 26 carriers have been reported. Homoplasmy was reported in 10/26 carriers (38\.5%), and 15/26 carriers (57\.7%) were affected. The main clinical manifestations among affected carriers included hearing loss.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7462 | m.7462C\>T |[ C7462T\-F1](https://mitofam.com/doc/745/) | Brazil | Hearing loss | 1 | 2 | 2010 | [20722495](https://pubmed.ncbi.nlm.nih.gov/20722495/) |  |
| 2 | 7462 | m.7462C\>T | [C7462T\-F2](https://mitofam.com/doc/746/) | Brazil | Hearing loss | 3 | 2 | 2010 | [20722495](https://pubmed.ncbi.nlm.nih.gov/20722495/) |  |
| 3 | 7462 | m.7462C\>T | [C7462T\-F3](https://mitofam.com/doc/747/) | Brazil | Hearing loss | 7 | 8 | 2010 | [20722495](https://pubmed.ncbi.nlm.nih.gov/20722495/) |  |

# **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 | 7462 | m.7462C\>T | C7462T\-F1 | C7462T\-F1\-II2 | Uninf | F | Y | Y | A | 26 | Homo | / | / | / | Hearing loss |  |
| 2 | 7462 | m.7462C\>T | C7462T\-F1 | C7462T\-F1\-III1 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 3 | 7462 | m.7462C\>T | C7462T\-F1 | C7462T\-F1\-III2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 4 | 7462 | m.7462C\>T | C7462T\-F1 | C7462T\-F1\-III3 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 5 | 7462 | m.7462C\>T | C7462T\-F2 | C7462T\-F2\-II2 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 6 | 7462 | m.7462C\>T | C7462T\-F2 | C7462T\-F2\-III2 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 7 | 7462 | m.7462C\>T | C7462T\-F2 | C7462T\-F2\-III4 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 8 | 7462 | m.7462C\>T | C7462T\-F2 | C7462T\-F2\-III5 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 9 | 7462 | m.7462C\>T | C7462T\-F2 | C7462T\-F2\-IV2 | Fam | ND | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 10 | 7462 | m.7462C\>T | C7462T\-F2 | C7462T\-F2\-IV3 | Fam | M | Y | Y | A | 14 | Homo | / | / | / | Hearing loss |  |
| 11 | 7462 | m.7462C\>T | C7462T\-F3 | C7462T\-F3\-II1 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 12 | 7462 | m.7462C\>T | C7462T\-F3 | C7462T\-F3\-II2 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 13 | 7462 | m.7462C\>T | C7462T\-F3 | C7462T\-F3\-II3 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 14 | 7462 | m.7462C\>T | C7462T\-F3 | C7462T\-F3\-II4 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 15 | 7462 | m.7462C\>T | C7462T\-F3 | C7462T\-F3\-II5 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 16 | 7462 | m.7462C\>T | C7462T\-F3 | C7462T\-F3\-III2 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 17 | 7462 | m.7462C\>T | C7462T\-F3 | C7462T\-F3\-III7 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 18 | 7462 | m.7462C\>T | C7462T\-F3 | C7462T\-F3\-III9 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 19 | 7462 | m.7462C\>T | C7462T\-F3 | C7462T\-F3\-III11 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 20 | 7462 | m.7462C\>T | C7462T\-F3 | C7462T\-F3\-III15 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 21 | 7462 | m.7462C\>T | C7462T\-F3 | C7462T\-F3\-IV3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 22 | 7462 | m.7462C\>T | C7462T\-F3 | C7462T\-F3\-IV4 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 23 | 7462 | m.7462C\>T | C7462T\-F3 | C7462T\-F3\-IV5 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 24 | 7462 | m.7462C\>T | C7462T\-F3 | C7462T\-F3\-IV6 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 25 | 7462 | m.7462C\>T | C7462T\-F3 | C7462T\-F3\-IV13 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 26 | 7462 | m.7462C\>T | C7462T\-F3 | C7462T\-F3\-V3 | Fam | F | Y | Y | A | 6 | Homo | / | / | / | Hearing loss |  |

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