ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1579A>G (p.Ile527Val)

gnomAD frequency: 0.00001  dbSNP: rs756058875
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001175958 SCV001339770 uncertain significance Cardiomyopathy 2023-12-05 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with valine at codon 527 of the DSC2 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 3/251168 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 RCV001796378 SCV002032399 uncertain significance not provided 2021-06-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 918390; Landrum et al., 2016); Not observed at significant frequency in large population cohorts (Lek 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: 27535533, 26582918)
Ambry Genetics RCV002393387 SCV002703368 uncertain significance Cardiovascular phenotype 2021-08-22 criteria provided, single submitter clinical testing The p.I527V variant (also known as c.1579A>G), located in coding exon 11 of the DSC2 gene, results from an A to G substitution at nucleotide position 1579. The isoleucine at codon 527 is replaced by valine, an amino acid with highly similar 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.
Fulgent Genetics, Fulgent Genetics RCV002480587 SCV002780286 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2021-08-03 criteria provided, single submitter clinical testing

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