T7505C

# **General Information**

| **Position** | **7505** | **Variant** | **m.7505T\>C** | **Locus** | **MT\-TS1** | **RNA** | **tRNA Ser (UCN)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 58\.60% | **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.7505T\>C** variant in MT\-TS1 has been reported in 2 pedigrees. To date, 13 carriers have been reported. Homoplasmy was reported in 13/13 carriers (100%), and 11/13 carriers (84\.6%) 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 | 7505 | m.7505T\>C | [T7505C\-F1 ](https://mitofam.com/doc/762/)| China | Hearing loss | 2 | 6 | 2010 | [20153673](https://pubmed.ncbi.nlm.nih.gov/20153673/) |  |
| 2 | 7505 | m.7505T\>C | [T7505C\-F2](https://mitofam.com/doc/763/) | China | Hearing loss | 0 | 3 | 2021 | [33638616](https://pubmed.ncbi.nlm.nih.gov/33638616/) |  |

# **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 | 7505 | m.7505T\>C | T7505C\-F1 | T7505C\-F1\-I2 | Uninf | F | N | Y | A | 18 | Homo | / | / | / | Hearing loss |  |
| 2 | 7505 | m.7505T\>C | T7505C\-F1 | T7505C\-F1\-II2 | Fam | F | N | Y | A | 8 | Homo | / | / | / | Hearing loss |  |
| 3 | 7505 | m.7505T\>C | T7505C\-F1 | T7505C\-F1\-II4 | Fam | M | N | Y | A | 6 | Homo | / | / | / | Hearing loss |  |
| 4 | 7505 | m.7505T\>C | T7505C\-F1 | T7505C\-F1\-II6 | Fam | M | N | Y | A | 5 | Homo | / | / | / | Hearing loss |  |
| 5 | 7505 | m.7505T\>C | T7505C\-F1 | T7505C\-F1\-II9 | Fam | F | N | Y | A | 7 | Homo | / | / | / | Hearing loss |  |
| 6 | 7505 | m.7505T\>C | T7505C\-F1 | T7505C\-F1\-III1 | Fam | M | Y | Y | A | 3 | Homo | / | / | / | Hearing loss |  |
| 7 | 7505 | m.7505T\>C | T7505C\-F1 | T7505C\-F1\-III2 | Fam | M | N | N | A | 3 | Homo | / | / | / | Healthy |  |
| 8 | 7505 | m.7505T\>C | T7505C\-F1 | T7505C\-F1\-III6 | Fam | M | N | N | A | 4 | Homo | / | / | / | Healthy |  |
| 9 | 7505 | m.7505T\>C | T7505C\-F1 | T7505C\-F1\-III7 | Fam | F | N | Y | A | 10 | Homo | / | / | / | Hearing loss |  |
| 10 | 7505 | m.7505T\>C | T7505C\-F2 | T7505C\-F2\-I2 | Uninf | F | N | Y | A | 63 | Homo | / | / | / | Hearing loss |  |
| 11 | 7505 | m.7505T\>C | T7505C\-F2 | T7505C\-F2\-II2 | Fam | F | N | Y | A | 37 | Homo | / | / | / | Hearing loss |  |
| 12 | 7505 | m.7505T\>C | T7505C\-F2 | T7505C\-F2\-III1 | Fam | M | Y | Y | A | 6 | Homo | / | / | / | Hearing loss |  |
| 13 | 7505 | m.7505T\>C | T7505C\-F2 | T7505C\-F2\-III2 | Fam | F | Y | Y | A | 20 months | Homo | / | / | / | Hearing loss |  |

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