T5794C

# **General Information**

| **Position** | **5794** | **Variant** | **m.5794T\>C** | **Locus** | **MT\-TC** | **RNA** | **tRNA Cys** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | nr | **Heteroplasmy** | nr | **mitoTIP** | 16\.00% | **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.5794T\>C** variant in MT\-TC has been reported in 2 pedigrees. To date, 2 carriers have been reported. Homoplasmy was reported in 2/2 carriers (100%), and 2/2 carriers (100%) were affected. The main clinical manifestations among affected carriers included non\-dystrophic myotonias.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5794 | m.5794T\>C | T5794C\-F1 | Iran | Non\-dystrophic myotonias | ND | ND | 2020 | [30430429](https://pubmed.ncbi.nlm.nih.gov/30430429/) |  |
| 2 | 5794 | m.5794T\>C | T5794C\-F2 | Iran | Non\-dystrophic myotonias | ND | ND | 2020 | [30430429](https://pubmed.ncbi.nlm.nih.gov/30430429/) |  |

# **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 | 5794 | m.5794T\>C | T5794C\-F1 | T5794C\-F1\-P1 | uninf | ND | Y | Y | ND | ND | Homo | / | / | / | Non\-dystrophic myotonias |  |
| 2 | 5794 | m.5794T\>C | T5794C\-F2 | T5794C\-F2\-P1 | uninf | ND | Y | Y | ND | ND | Homo | / | / | / | Non\-dystrophic myotonias |  |

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