ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.792T>A (p.Asp264Glu)

gnomAD frequency: 0.00001  dbSNP: rs869025388
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208038 SCV000263851 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2015-02-10 criteria provided, single submitter clinical testing
Invitae RCV002515541 SCV003443783 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2022-07-23 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 222562). This missense change has been observed in individual(s) with arrhythmogenic cardiomyopathy (PMID: 20400443, 21606390, 24704780). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 264 of the DSG2 protein (p.Asp264Glu).

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