A8812G

# **General Information**

| **Position** | **8812** | **Variant** | **m.8812A\>G** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **T96A** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-benign | **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.8812A\>G** variant in MT\-ATP6 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 97%, with a median of 97% overall; affected carriers showed mutation loads from 97%, with a median of 97%. The main clinical manifestations among affected carriers included cerebellar atrophy and pure progressive ataxic syndrome.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8812 | m.8812A\>G | A8812G\-F1 | Germany | Spinocerebellar ataxia | 0 | 0 | 2021 | [34037856](https://pubmed.ncbi.nlm.nih.gov/34037856/) |  |

# **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 | 8812 | m.8812A\>G | A8812G\-F1 | A8812G\-F1\-II1 | Uninf | M | Y | Y | A | 56 | 97% | / | / | / | pure progressive ataxic syndrome; cerebellar atrophy |  |

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