C8611A

# **General Information**

| **Position** | **8611** | **Variant** | **m.8611C\>A** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **L29M** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | 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.8611C\>A** variant in MT\-ATP6 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 100%, with a median of 100% overall; affected carriers showed mutation loads from 100%, with a median of 100%. The main clinical manifestations among affected carriers included neurodevelopmental delay, cerebellar atrophy, and strabismus..

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8611 | m.8611C\>A | C8611A\-F1 | USA | Neurodevelopmental delay; cerebellar atrophy; strabismus | 0 | 0 | 2025 | [40241304](https://pubmed.ncbi.nlm.nih.gov/40241304/) |  |

# **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 | 8611 | m.8611C\>A | C8611A\-F1 | C8611A\-F1\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | 100%(ES sample; tissue NR) | Neurodevelopmental delay; cerebellar atrophy; strabismus. |  |

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