ClinVar Miner

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

dbSNP: rs200264407
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Total submissions: 7
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001050763 SCV001214885 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2022-09-03 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1089 of the DSG2 protein (p.Gly1089Val). This variant is present in population databases (rs200264407, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. 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. 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 Diagnostics, LLC DBA Color Health RCV001170381 SCV001343359 uncertain significance Cardiomyopathy 2023-03-22 criteria provided, single submitter clinical testing This missense variant replaces glycine with valine at codon 1089 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 cardiovascular disorders in the literature. This variant has been identified in 5/249268 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 RCV000171906 SCV001826587 uncertain significance not provided 2021-03-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Reported in ClinVar but additional evidence is not available (ClinVar Variant ID #191632; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23861362)
Fulgent Genetics, Fulgent Genetics RCV002485099 SCV002786019 uncertain significance Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 2021-08-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995662 SCV004819980 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2024-01-18 criteria provided, single submitter clinical testing This missense variant replaces glycine with valine at codon 1089 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 cardiovascular disorders in the literature. This variant has been identified in 5/249268 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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