ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2608G>T (p.Gly870Cys)

dbSNP: rs1986689119
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176467 SCV001340456 uncertain significance Cardiomyopathy 2020-01-09 criteria provided, single submitter clinical testing This missense variant replaces glycine with cysteine at codon 870 of the DSC2 protein. Computational prediction tool is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001346287 SCV001540471 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2021-02-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 918734). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with cysteine at codon 870 of the DSC2 protein (p.Gly870Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine.

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