T8570C

# **General Information**

| **Position** | **8570** | **Variant** | **m.8570T\>C** | **Locus** | **MT\-ATP8/6** | **Amino\-AcidChange** | **ATP8:Term69Q ATP6:L15P** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **Pathogenicity** | Reported \[VUS] |

"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.8570T\>C** variant in MT\-ATP8/6 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 95% to 96\.2%, with a median of 95\.6% overall; affected carriers showed mutation loads from 95% to 96\.2%, with a median of 95\.6%. The main clinical manifestations among affected carriers included cardiac hypertrophy, brain atrophy, developmental delay, and metabolic crises with elevated lactate.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8570 | m.8570T\>C | T8570C\-F1 | Germany | Mitochondrial disease with cardiac hypertrophy and developmental delay | 0 | 0 | 2025 | [40367733](https://pubmed.ncbi.nlm.nih.gov/40367733/) |  |

# **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 | 8570 | m.8570T\>C | T8570C\-F1 | T8570C\-F1\-II1 | Uninf | M | Y | Y | A | 4 | 95% | / | / | 96\.2%(F) | Cardiac hypertrophy; brain atrophy; developmental delay; metabolic crises with elevated lactate |  |

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