ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.713A>G (p.Asp238Gly)

dbSNP: rs2144833773
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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 RCV002018544 SCV002298905 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2022-10-13 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DSC2 protein function. ClinVar contains an entry for this variant (Variation ID: 1514029). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 238 of the DSC2 protein (p.Asp238Gly).
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes RCV002260408 SCV002540061 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2022-06-01 criteria provided, single submitter curation

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