G7023A

# **General Information**

| **Position** | **7023** | **Variant** | **m.7023G\>A** | **Locus** | **MT\-CO1** | **Amino\-AcidChange** | **V374M** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.7023G\>A** variant in MT\-CO1 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 60% to 96%, with a median of 77% overall; affected carriers showed mutation loads from 60% to 96%, with a median of 77%. The main clinical manifestations among affected carriers included mELAS\-like syndrome, aphasia, elevated CSF lactate, mild developmental delay, seizures, stroke\-like episodes, and weakness.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7023 | m.7023G\>A | G7023A\-F1 | Polish | MELAS\-like syndrome | 0 | 0 | 2009 | [19568996](https://pubmed.ncbi.nlm.nih.gov/19568996/) |  |

# **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 | 7023 | m.7023G\>A | G7023A\-F1 | G7023A\-F1\-P1 | De novo | F | Y | Y | A | 11 | 70% | 96% | / | 84%(BM); 60%(F) | MELAS\-like syndrome; seizures; stroke\-like episodes; aphasia; weakness; mild developmental delay; elevated CSF lactate |  |

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