G9379A

# **General Information**

| **Position** | **9379** | **Variant** | **m.9379G\>A** | **Locus** | **MT\-CO3** | **Amino\-AcidChange** | **W58Term** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | NA | **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.9379G\>A** variant in MT\-CO3 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0% to 93%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 93%, with a median of 0%. In one affected carrier, the mutation was undetectable in blood (0%) and hair (0%) but exceeded 20% in muscle (93%). The main clinical manifestations among affected carriers included childhood\-onset myopathy, delayed growth, exercise intolerance, fatigue, generalized weakness, lactic acidosis, painful muscle cramps, and severe COX deficiency.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9379 | m.9379G\>A | G9379A\-F1 | Germany | Mitochondrial myopathy; exercise intolerance; lactic acidosis; delayed growth; COX deficiency | ND | ND | 2002 | [12414820](https://pubmed.ncbi.nlm.nih.gov/12414820/) |  |

# **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 | 9379 | m.9379G\>A | G9379A\-F1 | G9379A\-F1\-P1 | De novo | M | Y | Y | A | 14 | 0% | 93% | / | 0%(H) | Childhood\-onset myopathy, exercise intolerance, painful muscle cramps, fatigue, generalized weakness, lactic acidosis, delayed growth, severe COX deficiency |  |

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