L10M (p.Leu10Met) variant of ACTC1 (Actin, alpha cardiac muscle 1)
L10M (p.Leu10Met) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L10M (p.Leu10Met) variant details
- p.Leu10Met
- rs397517057
- ClinGen CA019732
- ClinVar RCV000043641
- ClinVar RCV000251618
- Conflicting interpretations
- Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.77
- MetaLR 0.95
- MetaSVM 1.07
- CADD 25.50
- PolyPhen-2 0.86
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.8e-05)
- 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: Dilated Cardiomyopathy Overview. (PMID 20301486)