ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3347G>A (p.Arg1116His)

gnomAD frequency: 0.00005  dbSNP: rs369247906
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001084669 SCV000287406 likely benign Hypertrophic cardiomyopathy 14 2024-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000251514 SCV000319927 likely benign Cardiovascular phenotype 2023-10-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000443494 SCV000535687 uncertain significance not provided 2024-02-26 criteria provided, single submitter clinical testing Identified in patients with HCM and cardiac conduction system disease (CCSD) (PMID: 18258667, 31977013); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 18258667, 35621855, 29875424, 31977013)
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000623582 SCV000740619 uncertain significance Primary familial hypertrophic cardiomyopathy 2017-02-11 criteria provided, single submitter clinical testing

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