A7222G

# **General Information**

| **Position** | **7222** | **Variant** | **m.7222A\>G** | **Locus** | **MT\-CO1** | **Amino\-AcidChange** | **Y440C** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | nr | **Heteroplasmy** | nr | **APOGEE2** | VUS\+ | **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.7222A\>G** variant in MT\-CO1 has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 0% to 37%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 37%, with a median of 0%; unaffected carriers showed mutation loads from 0%, with a median of 0%. In one affected carrier, the mutation was undetectable in blood (0%), bone marrow (0%), and hair (0%) but exceeded 20% in muscle (37%). The main clinical manifestations among affected carriers included mitochondrial myopathy, facial and proximal weakness, progressive limb weakness, ptosis, and recurrent falls.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7222 | m.7222A\>G | [A7222G\-F1 ](https://mitofam.com/doc/885/)| USA | Mitochondrial myopathy | 1 | 0 | 2012 | [22632780](https://pubmed.ncbi.nlm.nih.gov/22632780/) |  |

# **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 | 7222 | m.7222A\>G | A7222G\-F1 | A7222G\-F1\-I1 | Uninf | F | Y | Y | A | 64 | 0% | 37% | 5\.3% | 0%(BM); 0%(H) | Mitochondrial myopathy; progressive limb weakness; recurrent falls; ptosis; facial and proximal weakness |  |
| 2 | 7222 | m.7222A\>G | A7222G\-F1 | A7222G\-F1\-II1 | Fam | F | N | N | A | ND | 0% | / | / | / | Healthy |  |

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