G8572A

# **General Information**

| **Position** | **8572** | **Variant** | **m.8572G\>A** | **Locus** | **MT\-ATP8/6** | **Amino\-AcidChange** | **ATP8:Term69Term ATP6:G16S** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.8572G\>A** variant in MT\-ATP8/6 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 adult\-onset spinocerebellar ataxia, dysarthria, dysmetria, global brain atrophy including cerebellum, mild gait ataxia, and restless legs syndrome.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8572 | m.8572G\>A | [G8572A\-F1](https://mitofam.com/doc/1848/) | Germany | Adult\-onset 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 | 8572 | m.8572G\>A | G8572A\-F1 | G8572A\-F1\-II1 | Uninf | F | Y | Y | A | 75 | Homo | / | / | / | Adult\-onset spinocerebellar ataxia; mild gait ataxia; dysmetria; dysarthria; restless legs syndrome; global brain atrophy including cerebellum |  |

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