ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.670A>G (p.Ser224Gly)

dbSNP: rs1060502863
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472721 SCV000551004 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2016-05-28 criteria provided, single submitter clinical testing 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DSG2-related disease. This sequence change replaces serine with glycine at codon 224 of the DSG2 protein (p.Ser224Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine.
All of Us Research Program, National Institutes of Health RCV004000823 SCV004837056 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2023-10-06 criteria provided, single submitter clinical testing This missense variant replaces serine with glycine at codon 224 of the DSG2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with DSG2-related 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.

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