A8836G

# **General Information**

| **Position** | **8836** | **Variant** | **m.8836A\>G** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **M104V** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.8836A\>G** variant in MT\-ATP6 has been reported in 2 pedigrees. To date, 2 carriers have been reported. Homoplasmy was reported in 2/2 carriers (100%), and 2/2 carriers (100%) were affected. The main clinical manifestations among affected carriers included 40 OS., 50 OD and 20, LHON, lHON\-like optic neuropathy, VA 20, bad vision in darkness, decreased visual acuity, headaches, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8836 | m.8836A\>G | A8836G\-F1 | Serbia | Leber hereditary optic neuropathy | 0 | 0 | 2020 | [32887465](https://pubmed.ncbi.nlm.nih.gov/32887465/) |  |
| 2 | 8836 | m.8836A\>G | A8836G\-F2 | Saudi Arabia | LHON\-like optic neuropathy | 0 | 0 | 2006 | [17003408](https://pubmed.ncbi.nlm.nih.gov/17003408/) |  |

# **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 | 8836 | m.8836A\>G | A8836G\-F1 | A8836G\-F1\-P1 | Uninf | M | Y | Y | A | 33 | Homo | / | / | / | LHON; sequential poor vision; decreased visual acuity; bad vision in darkness; retinal detachment; headaches |  |
| 2 | 8836 | m.8836A\>G | A8836G\-F2 | A8836G\-F2\-P1 | Uninf | M | Y | Y | ND | 11 | Homo | / | / | / | LHON\-like optic neuropathy; small central scotomas; VA 20/50 OD and 20/40 OS. |  |

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