ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2147G>C (p.Cys716Ser)

gnomAD frequency: 0.00001  dbSNP: rs764008863
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000795606 SCV000935074 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 716 of the DSC2 protein (p.Cys716Ser). 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 affected with DSC2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Ambry Genetics RCV002426866 SCV002730405 uncertain significance Cardiovascular phenotype 2021-05-20 criteria provided, single submitter clinical testing The p.C716S variant (also known as c.2147G>C), located in coding exon 14 of the DSC2 gene, results from a G to C substitution at nucleotide position 2147. The cysteine at codon 716 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV003996599 SCV004818647 uncertain significance Familial isolated arrhythmogenic right ventricular dysplasia 2023-03-28 criteria provided, single submitter clinical testing

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