A8411G

# **General Information**

| **Position** | **8411** | **Variant** | **m.8411A\>G** | **Locus** | **MT\-ATP8** | **Amino\-AcidChange** | **M16V** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.8411A\>G** variant in MT\-ATP8 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 97%, with a median of 97% overall; affected carriers showed mutation loads from 97%, with a median of 97%. The main clinical manifestations among affected carriers included leukodystrophy, congenital deafness, psychomotor delay, seizures, and spastic tetraplegia.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8411 | m.8411A\>G | [A8411G\-F1](https://mitofam.com/doc/1834/) | Tunisia | Leukodystrophy; severe mitochondrial disorder | 0 | 0 | 2010 | [20207608](https://pubmed.ncbi.nlm.nih.gov/20207608/) |  |

# **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 | 8411 | m.8411A\>G | A8411G\-F1 | A8411G\-F1\-III5 | De novo | M | Y | Y | D | 10 | 97% | / | / | / | Leukodystrophy; psychomotor delay; congenital deafness; spastic tetraplegia; seizures |  |

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