A8381G

# **General Information**

| **Position** | **8381** | **Variant** | **m.8381A\>G** | **Locus** | **MT\-ATP8** | **Amino\-AcidChange** | **T6A** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.8381A\>G** variant in MT\-ATP8 has been reported in 2 pedigrees. To date, 2 carriers have been reported. Homoplasmy was reported in 2/2 carriers (100%), and 2/2 carriers (100%) were affected. The main clinical manifestations among affected carriers included maternally inherited diabetes and deafness, mitochondriopathy, dysarthria, hypoacousia, left ventricular hypertrabeculation, macular dystrophy, noncompaction, progressive weakness, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8381 | m.8381A\>G | A8381G\-F1 | France | Maternally inherited diabetes and deafness | 0 | 0 | 2000 | [11062027](https://pubmed.ncbi.nlm.nih.gov/11062027/) |  |
| 2 | 8381 | m.8381A\>G | A8381G\-F2 | Austria | Mitochondriopathy with left ventricular hypertrabeculation/noncompaction | 0 | 0 | 2004 | [15452396](https://pubmed.ncbi.nlm.nih.gov/15452396/) |  |

# **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 | 8381 | m.8381A\>G | A8381G\-F1 | A8381G\-F1\-P1 | Uninf | ND | Y | Y | A | 57 | Homo | Homo | / | / | Maternally inherited diabetes and deafness; hypoacousia; macular dystrophy |  |
| 2 | 8381 | m.8381A\>G | A8381G\-F2 | A8381G\-F2\-P1 | Uninf | M | Y | Y | A | 38 | / | Homo | / | / | Mitochondriopathy; left ventricular hypertrabeculation/noncompaction; seizures; progressive weakness; dysarthria |  |

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

# **General Information**

| **Position** | **8381** | **Variant** | **m.8381A\>G** | **Locus** | **MT\-ATP8** | **Amino\-AcidChange** | **T6A** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.8381A\>G** variant in MT\-ATP8 has been reported in 2 pedigrees. To date, 2 carriers have been reported. Homoplasmy was reported in 2/2 carriers (100%), and 2/2 carriers (100%) were affected. The main clinical manifestations among affected carriers included maternally inherited diabetes and deafness, mitochondriopathy, dysarthria, hypoacousia, left ventricular hypertrabeculation, macular dystrophy, noncompaction, progressive weakness, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8381 | m.8381A\>G | A8381G\-F1 | France | Maternally inherited diabetes and deafness | 0 | 0 | 2000 | [11062027](https://pubmed.ncbi.nlm.nih.gov/11062027/) |  |
| 2 | 8381 | m.8381A\>G | A8381G\-F2 | Austria | Mitochondriopathy with left ventricular hypertrabeculation/noncompaction | 0 | 0 | 2004 | [15452396](https://pubmed.ncbi.nlm.nih.gov/15452396/) |  |

# **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 | 8381 | m.8381A\>G | A8381G\-F1 | A8381G\-F1\-P1 | Uninf | ND | Y | Y | A | 57 | Homo | Homo | / | / | Maternally inherited diabetes and deafness; hypoacousia; macular dystrophy |  |
| 2 | 8381 | m.8381A\>G | A8381G\-F2 | A8381G\-F2\-P1 | Uninf | M | Y | Y | A | 38 | / | Homo | / | / | Mitochondriopathy; left ventricular hypertrabeculation/noncompaction; seizures; progressive weakness; dysarthria |  |

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