ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4595G>T (p.Arg1532Leu) (rs34330111)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154756 SCV000204436 uncertain significance not specified 2013-09-09 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg1532Leu vari ant in MYH6 has not been reported in individuals with cardiomyopathy, but has be en identified in 0.2% (9/4406) of African American chromosomes by the NHLBI Exom e Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs34330111). Comp utational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to t he protein. While the frequency of this variant suggests that it is more likely benign, it is too low to confidently rule out a disease-causing role. Additional information is needed to fully assess the clinical significance of this variant .
Invitae RCV000228396 SCV000287429 likely benign not provided 2019-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000154756 SCV000616985 likely benign not specified 2018-02-02 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.
Ambry Genetics RCV000620512 SCV000736263 likely benign Cardiovascular phenotype 2018-04-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000623367 SCV000740622 uncertain significance Primary familial hypertrophic cardiomyopathy 2017-03-21 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852692 SCV000995402 likely benign Cardiomyopathy 2018-04-23 criteria provided, single submitter clinical testing

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