ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2339C>T (p.Ala780Val) (rs547406532)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000870771 SCV001012314 likely benign not provided 2019-01-07 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170378 SCV001332953 likely benign Cardiomyopathy 2018-04-17 criteria provided, single submitter clinical testing
Invitae RCV001444786 SCV001647797 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-06-10 criteria provided, single submitter clinical testing
Color Health, Inc RCV001170378 SCV001735609 uncertain significance Cardiomyopathy 2020-11-11 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 780 of the DSG2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 33/280200 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.
GeneDx RCV000870771 SCV001766042 uncertain significance not provided 2019-03-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28454995, 24238504)

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