ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1901G>A (p.Arg634His) (rs200475862)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039413 SCV000063097 uncertain significance not specified 2012-02-07 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg634His varia nt (DSC2) has been identified in 1 individual with ARVC tested by our laboratory , who also carried a second variant sufficient to cause disease. This variant ha s also been identified in 3/7020 European American chromosomes by the NHLBI Exom e Sequencing Project in a broad population (http://evs.gs.washington.edu/EVS). C omputational analyses (biochemical amino acid properties, conservation, AlignGVG D, PolyPhen2, and SIFT) suggest that the Arg634His variant may not impact the pr otein and opossum carries a Histadine (His, this variant) at this position, thou gh this information is not predictive enough to rule out pathogenicity. Collecti vely this data suggests that this variant may be benign, but additional informat ion is needed to fully assess its clinical significance.
Blueprint Genetics RCV000039413 SCV000206896 likely benign not specified 2015-11-30 criteria provided, single submitter clinical testing
GeneDx RCV000039413 SCV000233406 likely benign not specified 2017-02-09 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.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625298 SCV000744759 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-09-28 criteria provided, single submitter clinical testing
Color RCV001177612 SCV001341851 benign Cardiomyopathy 2019-01-10 criteria provided, single submitter clinical testing

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