T12313C

# **General Information**

| **Position** | **12313** | **Variant** | **m.12313T\>C** | **Locus** | **MT\-TL2** | **RNA** | **tRNA Leu (CUN)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 73\.20% | **Pathogenicity** | Reported |

"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.12313T\>C** variant in MT\-TL2 has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 0% to 72%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 72%, with a median of 0%; unaffected carriers showed mutation loads from 0%, with a median of 0%. In one affected carrier, the mutation was undetectable in blood (0%) and urine (0%) but exceeded 20% in muscle (72%). The main clinical manifestations among affected carriers included chronic progressive weakness of facioscapulohumeral and peroneal muscles.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12313 | m.12313T\>C | [T12313C\-F1](https://mitofam.com/doc/826/) | Italy | Chronic progressive weakness of facioscapulohumeral/peroneal muscles | ND | ND | 2008 | [18343111](https://pubmed.ncbi.nlm.nih.gov/18343111/) |  |

# **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 | 12313 | m.12313T\>C | T12313C\-F1 | T12313C\-F1\-II2 | Uninf | F | Y | Y | A | 45 | 0 | 72% | 0 | / | Chronic progressive weakness of facioscapulohumeral/peroneal muscles |  |
| 2 | 12313 | m.12313T\>C | T12313C\-F1 | T12313C\-F1\-III1 | Fam | F | N | N | A | 16 | 0 | / | 0 | / | Healthy |  |

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