G6955A

# **General Information**

| **Position** | **6955** | **Variant** | **m.6955G\>A** | **Locus** | **MT\-CO1** | **Amino\-AcidChange** | **G351D** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **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.6955G\>A** variant in MT\-CO1 has been reported in 1 pedigree. To date, 1 carrier has been reported. Homoplasmy was reported in 1/1 carriers (100%), and 1/1 carriers (100%) were affected. The main clinical manifestations among affected carriers included moderate mental retardation, fatigability, growth retardation, mild exercise intolerance, and weakness.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 6955 | m.6955G\>A | G6955A\-F1 | Spanish | Mild exercise intolerance and moderate mental retardation | 0 | 0 | 2008 | [18484665](https://pubmed.ncbi.nlm.nih.gov/18484665/) | Mother's blood was negative |

# **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 | 6955 | m.6955G\>A | G6955A\-F1 | G6955A\-F1\-P1 | De novo | F | Y | Y | A | 13 | \+ | Homo | \+ | / | Moderate mental retardation; mild exercise intolerance; growth retardation; weakness; fatigability |  |

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