T12317C

# **General Information**

| **Position** | **12317** | **Variant** | **m.12317T\>C** | **Locus** | **MT\-TL2** | **RNA** | **tRNA Leu (CUN)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 41\.30% | **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.12317T\>C** variant in MT\-TL2 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 5% to 89%, with a median of 47% overall; affected carriers showed mutation loads from 5% to 89%, with a median of 47%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (89%) than in blood (5%). The main clinical manifestations among affected carriers included CPEO, diabetes, exercise intolerance, myopathy, and ptosis.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12317 | m.12317T\>C | T12317C\-F1 | UK | CPEO, ptosis, myopathy, exercise intolerance, diabetes | ND | ND | 2013 | [23696415](https://pubmed.ncbi.nlm.nih.gov/23696415/) |  |

# **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 | 12317 | m.12317T\>C | T12317C\-F1 | T12317C\-F1\-P1 | Uninf | M | Y | Y | A | 48 | 5% | 89% | / | / | CPEO, ptosis, myopathy, exercise intolerance, diabetes |  |

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