ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val) (rs200264407)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171906 SCV000050908 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV001050763 SCV001214885 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2019-03-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 1089 of the DSG2 protein (p.Gly1089Val). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs200264407, ExAC 0.005%). This variant has not been reported in the literature in individuals with DSG2-related disease. ClinVar contains an entry for this variant (Variation ID: 191632). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170381 SCV001332958 uncertain significance Cardiomyopathy 2017-11-07 criteria provided, single submitter clinical testing
Color Health, Inc RCV001170381 SCV001343359 uncertain significance Cardiomyopathy 2020-03-18 criteria provided, single submitter clinical testing

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