G8782A

# **General Information**

| **Position** | **8782** | **Variant** | **m.8782G\>A** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **G86Term** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | NA | **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.8782G\>A** variant in MT\-ATP6 has been reported in 2 pedigrees. To date, 2 carriers have been reported. Reported mutation loads ranged from 11% to 71%, with a median of 42% overall; affected carriers showed mutation loads from 11% to 71%, with a median of 42%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (71%) than in blood (31%). In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (71%) and urine (28%) than in blood (11%). The main clinical manifestations among affected carriers included adult\-onset cerebellar ataxia, myoclonic epilepsy and cerebellar ataxia, chronic kidney disease, and diabetes.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8782 | m.8782G\>A | G8782A\-F1 | UK | Truncating MT\-ATP6\-associated disease | 0 | 0 | 2020 | [32042910](https://pubmed.ncbi.nlm.nih.gov/32042910/) |  |
| 2 | 8782 | m.8782G\>A | G8782A\-F2 | UK | Myoclonic epilepsy and cerebellar ataxia | 0 | 0 | 2020 | [32042910](https://pubmed.ncbi.nlm.nih.gov/32042910/) |  |

# **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 | 8782 | m.8782G\>A | G8782A\-F1 | G8782A\-F1\-P1 | De novo | M | Y | Y | A | 16 | 31% | 71% | 53% | / | Adult\-onset cerebellar ataxia; chronic kidney disease; diabetes |  |
| 2 | 8782 | m.8782G\>A | G8782A\-F2 | G8782A\-F2\-P1 | De novo | F | Y | Y | A | 38 | 11% | 71% | 28% | / | Myoclonic epilepsy and cerebellar ataxia |  |

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