ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.298G>C (p.Gly100Arg)

gnomAD frequency: 0.00001  dbSNP: rs754405184
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001303073 SCV001492307 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2022-02-05 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 100 of the DSG2 protein (p.Gly100Arg). This variant is present in population databases (rs754405184, gnomAD 0.002%). This missense change has been observed in individuals with arrhythmogenic right ventricular cardiomyopathy (PMID: 16505173, 24070718). ClinVar contains an entry for this variant (Variation ID: 1006083). 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.

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