ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.1702C>T (p.Arg568Cys) (rs149650190)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154763 SCV000204443 uncertain significance not specified 2014-11-06 criteria provided, single submitter clinical testing The p.Arg568Cys variant in MYH6 has been reported in 1 Hispanic individual with DCM (Hershberger 2010) and has been identified in 1/8600 European American chrom osomes and 1/4406 African American chromosomes by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS/; dbSNP rs149650190). Computational predi ction tools and conservation analysis do not provide strong support for or again st an impact to the protein. In summary, the clinical significance of the p.Arg5 68Cys variant is uncertain.
Invitae RCV000460717 SCV000546164 uncertain significance Familial hypertrophic cardiomyopathy 14 2016-05-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 568 of the MYH6 protein (p.Arg568Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs149650190, ExAC 0.02%). This variant has been reported in an individual affected with dilated cardiomyopathy (PMID: 20215591). ClinVar contains an entry for this variant (Variation ID: 178072). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845511 SCV000987614 uncertain significance Primary familial hypertrophic cardiomyopathy criteria provided, single submitter clinical testing

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