rs104893750

This is a variant in the MYL3 gene that changes a glutamate to an lysine.

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ClinVar annotation

Pathogenic★★★☆
19 submitters23 publications

Cardiomyopathy (CMYO); Cardiovascular phenotype; Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy 8; MYL3-related disorder; Primary familial hypertrophic cardiomyopathy (HCM); not specified

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Research that mentions this SNP (1)

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Furthering the link between the sarcomere and primary cardiomyopathies: Restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy
Case reportCaleshu C. et al.(2011)· American Journal of Medical Genetics Part A

First report of mutations in TPM1, MYL3, and MYL2 genes associated with primary restrictive cardiomyopathy (RCM). Patient 1 carried homozygous p.Glu143Lys (rs104893750) in MYL3 and novel heterozygous p.Gly57Glu (rs2428140 variant site) in MYL2; Patient 2 carried homozygous p.Asn279His in TPM1. These case reports expand the association between sarcomere gene mutations and different cardiomyopathy phenotypes.

Traits studied:Dilated cardiomyopathyHypertrophic cardiomyopathyRestrictive cardiomyopathy
PubMedDOIMetascience Observatory

About MYL3

MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

View all MYL3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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