T7671A

# **General Information**

| **Position** | **7671** | **Variant** | **m.7671T\>A** | **Locus** | **MT\-CO2** | **Amino\-AcidChange** | **M29K** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Pathogenic | **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.7671T\>A** variant in MT\-CO2 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 4\.5% to 90%, with a median of 45% overall; affected carriers showed mutation loads from 4\.5% to 90%, with a median of 45%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (90%), cox\-negative muscle fibers (81%), and cox\-positive muscle fibers (45%) than in blood (4\.5%). The main clinical manifestations among affected carriers included proximal myopathy, fatigue, isolated COX deficiency, and lactic acidosis.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7671 | m.7671T\>A | T7671A\-F1 | United Kingdom | Myopathy; lactic acidosis; isolated COX deficiency | ND | ND | 1999 | [10486321](https://pubmed.ncbi.nlm.nih.gov/10486321/) |  |

# **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 | 7671 | m.7671T\>A | T7671A\-F1 | T7671A\-F1\-P1 | De novo | M | Y | Y | A | 14 | 4\.5%\-6% | 90% | / | 81%(COX\-negative muscle fibers); 45%(COX\-positive muscle fibers); cultured myoblasts/F negative | Proximal myopathy, fatigue, lactic acidosis, isolated COX deficiency |  |

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