G8529A

# **General Information**

| **Position** | **8529** | **Variant** | **m.8529G\>A** | **Locus** | **MT\-ATP8/6** | **Amino\-AcidChange** | **ATP8:W55Term ATP6:M1M** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | NA | **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.8529G\>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 apical hypertrophic cardiomyopathy, ataxia, axonal polyneuropathy, dysarthria, and ophthalmoplegia.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8529 | m.8529G\>A | G8529A\-F1 | Germany | Apical hypertrophic cardiomyopathy and neuropathy | 0 | 0 | 2008 | [17954552](https://pubmed.ncbi.nlm.nih.gov/17954552/) |  |

# **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 | 8529 | m.8529G\>A | G8529A\-F1 | G8529A\-F1\-II1 | Uninf | M | Y | Y | A | 16 | / | Homo | / | Homo(F) | Apical hypertrophic cardiomyopathy; ataxia; axonal polyneuropathy; dysarthria; ophthalmoplegia |  |

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