C3254A

# **General Information**

| **Position** | **3254** | **Variant** | **m.3254C\>T** | **Locus** | **MT\-TL1** | **RNA** | **tRNA Leu (UUR)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 25\.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.3254C\>T** variant in MT\-TL1 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 99%, with a median of 99% overall; affected carriers showed mutation loads from 99%, with a median of 99%. The main clinical manifestations among affected carriers included CPEO.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3254 | m.3254C\>T | C3254T\-F1 | / | CPEO | ND | ND | 2005 | [15870203](https://pubmed.ncbi.nlm.nih.gov/15870203/) |  |

# **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 | 3254 | m.3254C\>T | C3254T\-F1 | C3254T\-F1\-P1 | Uninf | ND | Y | Y | A | ND | / | \>99% | / | / | CPEO |  |

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