ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser) (rs869025387)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208375 SCV000263847 uncertain significance Primary dilated cardiomyopathy 2015-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621279 SCV000736684 uncertain significance Cardiovascular phenotype 2016-10-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000806733 SCV000946748 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 11 2018-08-01 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 671 of the DSC2 protein (p.Cys671Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DSC2-related disease. ClinVar contains an entry for this variant (Variation ID: 222559). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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