G15723A

# **General Information**

| **Position** | **15723** | **Variant** | **m.15723G\>A** | **Locus** | **MT\-CYB** | **Amino\-AcidChange** | **W326Term** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | NA | **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.15723G\>A** variant in MT\-CYB has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 87%, with a median of 87% overall; affected carriers showed mutation loads from 87%, with a median of 87%. The main clinical manifestations among affected carriers included exercise intolerance, facial weakness, hyperlactacidemia, masticatory fatigue, mild myopathy, and proximal limb weakness.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15723 | m.15723G\>A | G15723A\-F1 | USA | Facial weakness, Fatigue, Shortness of breath, Mild myopathy | 0 | 0 | 1999 | [10502593](https://pubmed.ncbi.nlm.nih.gov/10502593/) |  |

# **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 | 15723 | m.15723G\>A | G15723A\-F1 | G15723A\-F1\-I1 | De novo | M | Y | Y | A | 51 | / | 87% | / | / | Exercise intolerance; masticatory fatigue; proximal limb weakness; facial weakness; hyperlactacidemia; mild myopathy | Blood sample not available; no myoglobinuria for Patient 5 in Table 1\. |

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