T5709C

# **General Information**

| **Position** | **5709** | **Variant** | **m.5709T\>C** | **Locus** | **MT\-TN** | **RNA** | **tRNA Asn** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 49\.80% | **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.5709T\>C** variant in MT\-TN has been reported in 2 pedigrees. To date, 5 carriers have been reported. Reported mutation loads ranged from 21\.7% to 89%, with a median of 40% overall; affected carriers showed mutation loads from 21\.7% to 89%, with a median of 40%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (89%) than in blood (21\.7%). The main clinical manifestations among affected carriers included ophthalmoparesis, muscle weakness, sarcoidosis, seizures, and respiratory impairment.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5709 | m.5709T\>C |[ T5709C\-F1](https://mitofam.com/doc/689/) | Italy | Ophthalmoparesis, respiratory impairment | 0 | 2 | 2012 | [22189266](https://pubmed.ncbi.nlm.nih.gov/22189266/) |  |
| 2 | 5709 | m.5709T\>C | [T5709C\-F2](https://mitofam.com/doc/690/) | China | Muscle weakness, seizures | 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 | 5709 | m.5709T\>C | T5709C\-F1 | T5709C\-F1\-I2 | Uninf | F | N | Y | A | ND | / | / | / | / | Sarcoidosis, ophthalmoparesis |  |
| 2 | 5709 | m.5709T\>C | T5709C\-F1 | T5709C\-F1\-II2 | Fam | F | N | Y | A | ND | / | / | / | / | Sarcoidosis, ophthalmoparesis |  |
| 3 | 5709 | m.5709T\>C | T5709C\-F1 | T5709C\-F1\-III1 | Fam | F | Y | Y | A | 47 | 21\.7% | 89% | / | / | Ophthalmoparesis, respiratory impairment |  |
| 4 | 5709 | m.5709T\>C | T5709C\-F2 | T5709C\-F2\-II2 | Uninf | F | N | Y | A | 56 | 34% | / | / | / | Muscle weakness, seizures |  |
| 5 | 5709 | m.5709T\>C | T5709C\-F2 | T5709C\-F2\-III1 | Fam | F | Y | Y | A | 22 | 46% | / | / | / | Muscle weakness, seizures |  |

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