G12C (p.Gly12Cys) variant of MYL2 (P10916)
G12C (p.Gly12Cys) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G12C (p.Gly12Cys) variant details
- p.Gly12Cys
- rs730880937
- ClinGen CA010134
- ClinVar RCV000774463
- ClinVar RCV001208534
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.55
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.10
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00037)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)