G8304A

# **General Information**

| **Position** | **8304** | **Variant** | **m.8304G\>A** | **Locus** | **MT\-TK** | **RNA** | **tRNA Lys** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 89\.70% | **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.8304G\>A** variant in MT\-TK has been reported in 1 pedigree. To date, 3 carriers have been reported. Reported mutation loads ranged from 0% to 82%, with a median of 10% overall; affected carriers showed mutation loads from 18% to 82%, with a median of 58%; unaffected carriers showed mutation loads from 0% to 10%, with a median of 2\.5%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (82%) and urine (58%) than in blood (18%). In one unaffected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in urine (10%) than in blood (5%). The main clinical manifestations among affected carriers included epilepsy, ataxia, deafness, and visual disturbance.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8304 | m.8304G\>A | [G8304A\-F1 ](https://mitofam.com/doc/2195/)| United Kingdom | Epilepsy; ataxia; visual disturbance; deafness | 2 | 0 | 2013 | [23696415](https://pubmed.ncbi.nlm.nih.gov/23696415/) | Patient 6 in Table 1\. |

# **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 | 8304 | m.8304G\>A | G8304A\-F1 | G8304A\-F1\-II1 | Fam | M | Y | Y | ND | 7 | 18% | 82% | 58% | / | Epilepsy; ataxia; visual disturbance; deafness | Patient 6 in Table 1\. |
| 2 | 8304 | m.8304G\>A | G8304A\-F1 | G8304A\-F1\-I1 | uninf | F | N | N | A | ND | 5% | / | 10% | / | Healthy | Unaffected mother tested positive in blood and urine. |
| 3 | 8304 | m.8304G\>A | G8304A\-F1 | G8304A\-F1\-II2 | Fam | F | N | N | A | ND | 0 | / | 0 | / | Healthy | Eligible tested\-negative child of target\-positive mother; blood and urine 0%. |

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