ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.261C>A (p.Tyr87Ter)

dbSNP: rs1175183896
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001183156 SCV001348813 uncertain significance Cardiomyopathy 2019-09-10 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 4 of the DSG2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 1/249228 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Although there is a suspicion that this variant may be associated with disease, additional studies are necessary 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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