ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.653G>A (p.Gly218Glu)

gnomAD frequency: 0.00001  dbSNP: rs794728082
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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 RCV000208459 SCV000263850 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2015-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765341 SCV004677506 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2023-07-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 222561). 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DSG2 protein function. This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 218 of the DSG2 protein (p.Gly218Glu).

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