ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2468A>G (p.Asp823Gly) (rs777642924)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216642 SCV000271716 uncertain significance not specified 2015-12-10 criteria provided, single submitter clinical testing The p.Asp823Gly variant in DSG2 has not been previously reported in individuals with cardiomyopathy. It has been identified in 1/66696 European chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs 777642924). Computational prediction tools and conservation analysis suggest tha t this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Asp823Gly variant is uncertain.
Color Health, Inc RCV001187397 SCV001354199 uncertain significance Cardiomyopathy 2021-01-07 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with glycine at codon 823 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 3/280738 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.

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