ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1435A>G (p.Lys479Glu)

dbSNP: rs779432999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001190720 SCV001358298 uncertain significance Cardiomyopathy 2023-12-04 criteria provided, single submitter clinical testing This missense variant replaces lysine with glutamic acid at codon 479 of the DSG2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with DSG2-related disorders in the literature. This variant has been identified in 1/249228 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV002560957 SCV003491072 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2022-06-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 927422). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This missense change has been observed in individual(s) with arrhythmogenic cardiomyopathy (Invitae). This variant is present in population databases (rs779432999, gnomAD 0.0009%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 479 of the DSG2 protein (p.Lys479Glu).

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