T5692C

# **General Information**

| **Position** | **5692** | **Variant** | **m.5692T\>C** | **Locus** | **MT\-TN** | **RNA** | **tRNA Asn** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 46\.60% | **Pathogenicity** | Reported \[VUS] |

"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.5692T\>C** variant in MT\-TN has been reported in 3 pedigrees. To date, 3 carriers have been reported. Reported mutation loads ranged from 0% to 56%, with a median of 23% overall; affected carriers showed mutation loads from 0% to 56%, with a median of 23%. In one affected carrier, the mutation was undetectable in blood (0%) and fibroblasts (0%) but exceeded 20% in muscle (46%). The main clinical manifestations among affected carriers included PEO, CPEO, ataxia, deafness, exercise intolerance, and skeletal myopathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5692 | m.5692T\>C | T5692C\-F1 | Germany | CPEO | ND | ND | 1994 | [7980504](https://pubmed.ncbi.nlm.nih.gov/7980504/) |  |
| 2 | 5692 | m.5692T\>C | T5692C\-F2 | France | PEO, ataxia, deafness | ND | ND | 1998 | [9384601](https://pubmed.ncbi.nlm.nih.gov/9384601/) |  |
| 3 | 5692 | m.5692T\>C | T5692C\-F3 | France | PEO, exercise intolerance, skeletal myopathy | ND | ND | 2001 | [11335700](https://pubmed.ncbi.nlm.nih.gov/11335700/) |  |

# **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 | 5692 | m.5692T\>C | T5692C\-F1 | T5692C\-F1\-P1 | Uninf | ND | Y | Y | A | ND | / | 56% | / | / | CPEO |  |
| 2 | 5692 | m.5692T\>C | T5692C\-F2 | T5692C\-F2\-P1 | Uninf | ND | Y | Y | A | 55 | / | \+ | / | / | PEO, ataxia, deafness |  |
| 3 | 5692 | m.5692T\>C | T5692C\-F3 | T5692C\-F3\-P1 | Uninf | M | Y | Y | A | 56 | 0 | 46% | / | 0%(F) | PEO, exercise intolerance, skeletal myopathy |  |

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