A1437P (p.Ala1437Pro) variant of MYH7 (Myosin-7)
A1437P (p.Ala1437Pro) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Myopathy, myosin storage, autosomal recessive; Hypertrophic cardiomyopathy 1; MY. The record also includes published literature and structural context.
A1437P (p.Ala1437Pro) variant details
- p.Ala1437Pro
- rs2502251571
- ClinGen CA389040144
- ClinVar RCV003455828
- ClinVar RCV003455829
- Pathogenic/Likely pathogenic
- Myopathy, myosin storage, autosomal recessive; Hypertrophic cardiomyopathy 1; MY
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Myopathy, myosin storage, autosomal recessive; Hypertrophic card)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)