A15579G

# **General Information**

| **Position** | **15579** | **Variant** | **m.15579A\>G** | **Locus** | **MT\-CYB** | **Amino\-AcidChange** | **Y278C** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Pathogenic | **Pathogenicity** | Cfrm \[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.15579A\>G** variant in MT\-CYB has been reported in 2 pedigrees. To date, 2 carriers have been reported. Reported mutation loads ranged from 15% to 95%, with a median of 88% overall; affected carriers showed mutation loads from 15% to 95%, with a median of 88%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (88%) than in blood (15%). The main clinical manifestations among affected carriers included deafness, epilepsy, exercise Intolerance, multisystem Disorder, myalgia, retinitis Pigmentosa, second Wind Phenomenon, and severe Exercise Intolerance.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15579 | m.15579A\>G | A15579G\-F1 | France | Exercise Intolerance, Myalgia, Second Wind Phenomenon | 1 | 0 | 2018 | [30318261](https://pubmed.ncbi.nlm.nih.gov/30318261/) |  |
| 2 | 15579 | m.15579A\>G | A15579G\-F2 | Denmark | Severe Exercise Intolerance, Multisystem Disorder, Deafness, Retinitis Pigmentosa, Epilepsy | 1 | 0 | 2001 | 11601507; support: 23376095 | PMID 23376095 is support\-only cohort/pathology evidence for the same A15579G patient; primary PDF not supplied. |

# **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 | 15579 | m.15579A\>G | A15579G\-F1 | A15579G\-F1\-I1 | De novo | ND | Y | Y | ND | 25 | \+ | 95% | \+ | / | Exercise Intolerance, Myalgia, Second Wind Phenomenon |  |
| 2 | 15579 | m.15579A\>G | A15579G\-F2 | A15579G\-F2\-I1 | De novo | F | Y | Y | ND | 19 | 15% | 88% | / | / | Severe Exercise Intolerance, Multisystem Disorder, Deafness, Retinitis Pigmentosa, Epilepsy | PMID 23376095 is support\-only cohort/pathology evidence; primary PDF not supplied. |

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