T8612C

# **General Information**

| **Position** | **8612** | **Variant** | **m.8612T\>C** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **L29P** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | VUS | **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.8612T\>C** variant in MT\-ATP6 has been reported in 2 pedigrees. To date, 2 carriers have 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 arm and leg weakness, hypotonia, SMAN, anesthesia hypersensitivity, autism, bicuspid aortic valve, developmental delay, epilepsy, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8612 | m.8612T\>C | T8612C\-F1 | USA | Suspected mitochondrial disease; Leigh\-like MRI | 0 | 0 | 2019 | [30763462](https://pubmed.ncbi.nlm.nih.gov/30763462/) |  |
| 2 | 8612 | m.8612T\>C | T8612C\-F2 | USA | Childhood\-onset HSP with sensorimotor axonal neuropathy | 0 | 0 | 2022 | [35303589](https://pubmed.ncbi.nlm.nih.gov/35303589/) |  |

# **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 | 8612 | m.8612T\>C | T8612C\-F1 | T8612C\-F1\-P1 | Uninf | ND | Y | Y | A | 15 | 100% | / | / | / | Hypotonia; intellectual disability; putamen signal; bicuspid aortic valve; illness decompensation; anesthesia hypersensitivity; short stature; lactic acidemia |  |
| 2 | 8612 | m.8612T\>C | T8612C\-F2 | T8612C\-F2\-P1 | Uninf | F | Y | Y | A | 19 | / | / | / | / | Arm and leg weakness; incontinence; developmental delay; autism; epilepsy; mtSPG/SMAN |  |

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