ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1081G>A (p.Val361Met) (rs751810874)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497659 SCV000589440 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DSC2 gene. The V361M variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 6/30772 (0.02%) alleles from individuals of South Asian ancestry in large population cohorts (Lek et al., 2016). The V361M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function.
Ambry Genetics RCV000622048 SCV000735949 uncertain significance Cardiovascular phenotype 2017-07-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000772025 SCV000904981 uncertain significance Cardiomyopathy 2018-10-05 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the extracellular cadherin domain 3 of the DSC2 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 6/245192 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.

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