ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.269C>T (p.Thr90Ile) (rs772744115)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000472600 SCV000408202 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000472600 SCV000551024 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-09-17 criteria provided, single submitter clinical testing
Color Health, Inc RCV001179329 SCV001343967 uncertain significance Cardiomyopathy 2020-10-13 criteria provided, single submitter clinical testing This missense variant replaces threonine with isoleucine at codon 90 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 26/249224 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV001256908 SCV001433416 uncertain significance Arrhythmogenic right ventricular dysplasia, familial 1 2019-07-09 criteria provided, single submitter clinical testing
GeneDx RCV001558846 SCV001780875 uncertain significance not provided 2020-01-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported as a variant of uncertain significance in ClinVar (ClinVar Variant ID# 326474; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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