G6930A

# **General Information**

| **Position** | **6930** | **Variant** | **m.6930G\>A** | **Locus** | **MT\-CO1** | **Amino\-AcidChange** | **G343Term** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | NA | **Pathogenicity** | Cfrm \[LP] |

"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.6930G\>A** variant in MT\-CO1 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 27% to 75%, with a median of 33% overall; affected carriers showed mutation loads from 27% to 75%, with a median of 33%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (75%) than in blood (27%). The main clinical manifestations among affected carriers included multisystem mitochondrial disorder, ataxia, cataract, myoclonic epilepsy, neuropathy, optic atrophy, sensorineural hearing loss, and weakness.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 6930 | m.6930G\>A | G6930A\-F1 | Italian | Multisystem mitochondrial disorder | 0 | 0 | 1999 | [10441567](https://pubmed.ncbi.nlm.nih.gov/10441567/) |  |

# **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 | 6930 | m.6930G\>A | G6930A\-F1 | G6930A\-F1\-P1 | De novo | F | Y | Y | A | 21 | 27% | 75% | / | 33%(myoblasts) | Multisystem mitochondrial disorder; cataract; sensorineural hearing loss; myoclonic epilepsy; ataxia; weakness; optic atrophy; neuropathy |  |

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