A8302T

# **General Information**

| **Position** | **8302** | **Variant** | **m.8302A\>T** | **Locus** | **MT\-TK** | **RNA** | **tRNA Lys** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 15\.20% | **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.8302A\>T** variant in MT\-TK has been reported in 1 pedigree. To date, 1 carrier has been reported. Homoplasmy was reported in 1/1 carriers (100%), and 1/1 carriers (100%) were affected. The main clinical manifestations among affected carriers included encephalopathy, high blood lactate, lipidosis, and liver involvement.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8302 | m.8302A\>T | A8302T\-F1 | France | Encephalopathy | 0 | 0 | 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 | 8302 | m.8302A\>T | A8302T\-F1 | A8302T\-F1\-P1 | Uninf | M | Y | Y | ND | 1 | / | Homo | / | / | Encephalopathy; liver involvement; high blood lactate; lipidosis | Table 3 patient 36; A8302T with G10014A; no numeric mutant load.; Histochemistry/RC enzyme findings moved from Clinical Features during QC. |

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