A8319G

# **General Information**

| **Position** | **8319** | **Variant** | **m.8319A\>G** | **Locus** | **MT\-TK** | **RNA** | **tRNA Lys** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 69\.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.8319A\>G** variant in MT\-TK has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 87%, with a median of 87% overall; affected carriers showed mutation loads from 87%, with a median of 87%. The main clinical manifestations among affected carriers included kearns\-Sayre syndrome.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8319 | m.8319A\>G | A8319G\-F1 | USA | Kearns\-Sayre syndrome | 0 | 0 | 2013 | [23463613](https://pubmed.ncbi.nlm.nih.gov/23463613/) | / |

# **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 | 8319 | m.8319A\>G | A8319G\-F1 | A8319G\-F1\-P15 | De novo | ND | Y | Y | A | 17 | / | 87% | / | / | Kearns\-Sayre syndrome | m.8319A\>G detected in muscle; patient mother's blood was negative. |

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