ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1503G>T (p.Glu501Asp)

gnomAD frequency: 0.00002  dbSNP: rs1191142951
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773846 SCV000907546 likely benign Cardiomyopathy 2018-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001239198 SCV001412050 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2023-06-17 criteria provided, single submitter clinical testing 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 not expected to disrupt DSG2 protein function. ClinVar contains an entry for this variant (Variation ID: 629155). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 501 of the DSG2 protein (p.Glu501Asp). 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.
GeneDx RCV002469284 SCV002765228 uncertain significance not provided 2022-12-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
PreventionGenetics, part of Exact Sciences RCV003411711 SCV004112904 uncertain significance DSG2-related disorder 2022-11-06 criteria provided, single submitter clinical testing The DSG2 c.1503G>T variant is predicted to result in the amino acid substitution p.Glu501Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/18-29116244-G-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
All of Us Research Program, National Institutes of Health RCV004001332 SCV004819551 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing

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