G8989C

# **General Information**

| **Position** | **8989** | **Variant** | **m.8989G\>C** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **A155P** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **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.8989G\>C** variant in MT\-ATP6 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 33% to 94%, with a median of 90% overall; affected carriers showed mutation loads from 33% to 94%, with a median of 90%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (92%), urine (94%), and bone marrow (88%) than in blood (33%). The main clinical manifestations among affected carriers included NARP, cerebellar atrophy., gait ataxia, motor nerve affection, night blindness, retinitis pigmentosa, sensorineural hearing loss, and severe sensory neuropathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8989 | m.8989G\>C | G8989C\-F2 | Denmark | NARP syndrome | 0 | 0 | 2013 | [23266623](https://pubmed.ncbi.nlm.nih.gov/23266623/) |  |

# **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 | 8989 | m.8989G\>C | G8989C\-F2 | G8989C\-F2\-P1 | De novo | M | Y | Y | A | 53 | 33% | 92% | 94% | 88%(BM) | NARP; retinitis pigmentosa; night blindness; sensorineural hearing loss; gait ataxia; severe sensory neuropathy; motor nerve affection; cerebellar atrophy. |  |

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