T8362G

# **General Information**

| **Position** | **8362** | **Variant** | **m.8362T\>G** | **Locus** | **MT\-TK** | **RNA** | **tRNA Lys** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 93\.00% | **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.8362T\>G** variant in MT\-TK has been reported in 2 pedigrees. To date, 2 carriers have been reported. Reported mutation loads ranged from 67%, with a median of 67% overall; affected carriers showed mutation loads from 67%, with a median of 67%. The main clinical manifestations among affected carriers included deafness, cerebellar ataxia, myopathy, ataxia, diabetes, diabetes mellitus, lipomas, and skeletal myopathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8362 | m.8362T\>G | T8362G\-F1 | France | Myopathy / ataxia deafness diabetes mellitus | 0 | 0 | 2001 | [11335700](https://pubmed.ncbi.nlm.nih.gov/11335700/) | / |
| 2 | 8362 | m.8362T\>G | T8362G\-F2 | French | Mitochondrial disease with cerebellar ataxia, deafness, diabetes mellitus, and lipomas | 0 | 0 | 2013 | [23847141](https://pubmed.ncbi.nlm.nih.gov/23847141/) | / |

# **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 | 8362 | m.8362T\>G | T8362G\-F1 | T8362G\-F1\-P1 | Uninf | F | Y | Y | ND | 53 | / | 67% | / | / | Myopathy; skeletal myopathy; ataxia; deafness; diabetes | Table 3 patient 27; A5600G also present.; Histochemistry/RC enzyme findings moved from Clinical Features during QC. |
| 2 | 8362 | m.8362T\>G | T8362G\-F2 | T8362G\-F2\-P1 | Uninf | F | Y | Y | ND | \>16 | / | / | / | / | Cerebellar ataxia; deafness; diabetes mellitus; lipomas | Table 1 patient; exact mutation load not reported. |

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