T8936A

# **General Information**

| **Position** | **8936** | **Variant** | **m.8936T\>A** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **L137H** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.8936T\>A** variant in MT\-ATP6 has been reported in 1 pedigree. To date, 4 carriers have been reported. Reported mutation loads ranged from 5\.7% to 10\.9%, with a median of 7\.3% overall; affected carriers showed mutation loads from 8\.3% to 10\.9%, with a median of 9\.6%; unaffected carriers showed mutation loads from 5\.7% to 6\.3%, with a median of 6%. The main clinical manifestations among affected carriers included affected in pedigree., atypical Leigh syndrome, died at 2 months due to severe respiratory infection, died at birth due to meconium aspiration, began walking at age 3, behavioral disturbance, bilateral basal ganglia calcification, cognitive impairment, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8936 | m.8936T\>A | [T8936A\-F1](https://mitofam.com/doc/1785/) | India | Atypical Leigh syndrome with bilateral basal ganglia calcifications | 1 | 2 | 2018 | [29929013](https://pubmed.ncbi.nlm.nih.gov/29929013/) |  |

# **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 | 8936 | m.8936T\>A | T8936A\-F1 | T8936A\-F1\-I1 | Uninf | F | N | N | A | ND | 6\.28% | / | / | saliva: 5\.71% | Healthy/unaffected mother. |  |
| 2 | 8936 | m.8936T\>A | T8936A\-F1 | T8936A\-F1\-II1 | Fam | M | N | Y | D | newborn | / | / | / | / | Died at birth due to meconium aspiration; affected in pedigree. |  |
| 3 | 8936 | m.8936T\>A | T8936A\-F1 | T8936A\-F1\-II2 | Fam | F | N | Y | D | 2 mo | / | / | / | / | Died at 2 months due to severe respiratory infection; affected in pedigree. |  |
| 4 | 8936 | m.8936T\>A | T8936A\-F1 | T8936A\-F1\-II3 | Fam | M | Y | Y | A | 9 | 10\.92% | / | / | saliva: 8\.26% | Atypical Leigh syndrome; impaired speech; behavioral disturbance; cognitive impairment; delayed cry and milestones; began walking at age 3; bilateral basal ganglia calcification; focal ventricular dilatation. |  |

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