G15615A

# **General Information**

| **Position** | **15615** | **Variant** | **m.15615G\>A** | **Locus** | **MT\-CYB** | **Amino\-AcidChange** | **G290D** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.15615G\>A** variant in MT\-CYB has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0% to 80%, with a median of 40% overall; affected carriers showed mutation loads from 0% to 80%, with a median of 40%. In one affected carrier, the mutation was undetectable in blood (0%) but exceeded 20% in muscle (80%). The main clinical manifestations among affected carriers included myopathy and progressive Exercise Intolerance.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15615 | m.15615G\>A | [G15615A\-F1](https://mitofam.com/doc/1951/) | France | Progressive Exercise Intolerance, Myopathy | 0 | 0 | 1996 | [8910895](https://pubmed.ncbi.nlm.nih.gov/8910895/) | PMID 8988236 is support\-only for the same patient; transmission unresolved. |

# **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 | 15615 | m.15615G\>A | G15615A\-F1 | G15615A\-F1\-II1 | Uninf | M | Y | Y | A | 29 | 0 | 80% | / | / | Progressive Exercise Intolerance, Myopathy | PMID 8988236 supports same patient with whole muscle about 85% and C1 pellet about 30%; transmission unresolved. |

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