ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.595C>T (p.Arg199Cys) (rs769787593)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000590953 SCV000700122 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-10-01 criteria provided, single submitter research Found in patient having exome sequencing for an unrelated indication. No known history of arrhythmogenic right ventricular dysplasia. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.
Invitae RCV000693817 SCV000822236 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 11 2018-09-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 199 of the DSC2 protein (p.Arg199Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs769787593, ExAC 0.01%). This variant has been observed in an individual affected with left ventricular non-compaction  (PMID: 28798025). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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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