ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.769A>G (p.Arg257Gly)

gnomAD frequency: 0.00001  dbSNP: rs1253861748
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001190511 SCV001358014 uncertain significance Cardiomyopathy 2023-12-04 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the extracellular cadherin domain 2 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 1/245262 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
Ambry Genetics RCV002402555 SCV002673646 uncertain significance Cardiovascular phenotype 2021-07-07 criteria provided, single submitter clinical testing The p.R257G variant (also known as c.769A>G), located in coding exon 6 of the DSC2 gene, results from an A to G substitution at nucleotide position 769. The arginine at codon 257 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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