C5708T

# **General Information**

| **Position** | **5708** | **Variant** | **m.5708C\>T** | **Locus** | **MT\-TN** | **RNA** | **tRNA Asn** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **mitoTIP** | 28\.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.5708C\>T** variant in MT\-TN has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 80\.1% to 100%, with a median of 93\.2% overall; affected carriers showed mutation loads from 80\.1% to 100%, with a median of 93\.2%. The main clinical manifestations among affected carriers included myopathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5708 | m.5708C\>T | [C5708T\-F1](https://mitofam.com/doc/679/) | China | Myopathy | 0 | 1 | 2024 | [39175050](https://pubmed.ncbi.nlm.nih.gov/39175050/) |  |

# **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 | 5708 | m.5708C\>T | C5708T\-F1 | C5708T\-F1\-II2 | Uninf | F | N | Y | D | 34 | / | 91\.6% | / | / | Myopathy |  |
| 2 | 5708 | m.5708C\>T | C5708T\-F1 | C5708T\-F1\-III1 | Fam | F | Y | Y | A | 15 | 80\.1% | / | 1 | 94\.8%(BM) | Myopathy |  |

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