ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.1252G>A (p.Val418Met) (rs147606900)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254507 SCV000319710 uncertain significance Cardiovascular phenotype 2017-01-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172033 SCV000054818 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000037439 SCV000721902 likely benign not specified 2018-01-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000554738 SCV000648222 likely benign Familial hypertrophic cardiomyopathy 14 2017-04-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037439 SCV000061097 uncertain significance not specified 2012-07-31 criteria provided, single submitter clinical testing The Val418Met variant in MYH6 has been identified in 1/8600 European American an d 1/4406 African American chromosomes from broad populations by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS; dbSNP rs72646819). These c ould represent presymptomatic individuals. Computational analyses (biochemical a mino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provi de strong support for or against an impact to the protein. Additional informatio n is needed to fully assess the clinical significance of this variant.

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