C8578T

# **General Information**

| **Position** | **8578** | **Variant** | **m.8578C\>T** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **P18S** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.8578C\>T** variant in MT\-ATP6 has been reported in 1 pedigree. To date, 3 carriers have been reported. Homoplasmy was reported in 3/3 carriers (100%), and 2/3 carriers (66\.7%) were affected. The main clinical manifestations among affected carriers included dysarthria, dysphagia, gait ataxia, generalized dystonia, mild psychomotor developmental delay, and postural instability.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8578 | m.8578C\>T | [C8578T\-F1](https://mitofam.com/doc/1748/) | Germany | Spinocerebellar ataxia | 3 | 2 | 2021 | [34037856](https://pubmed.ncbi.nlm.nih.gov/34037856/) |  |

# **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 | 8578 | m.8578C\>T | C8578T\-F1 | C8578T\-F1\-II1 | Fam | M | N | Y | A | 65 | Homo | / | / | / | generalized dystonia; dysarthria; dysphagia; mild psychomotor developmental delay |  |
| 2 | 8578 | m.8578C\>T | C8578T\-F1 | C8578T\-F1\-II2 | Fam | M | Y | Y | A | 63 | Homo | / | / | / | gait ataxia; postural instability; dysarthria |  |
| 3 | 8578 | m.8578C\>T | C8578T\-F1 | C8578T\-F1\-II4 | Fam | F | N | N | A | 48 | Homo | / | / | / | Healthy |  |

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