ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1297G>T (p.Asp433Tyr) (rs938919152)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619981 SCV000734880 uncertain significance Cardiovascular phenotype 2020-02-27 criteria provided, single submitter clinical testing The p.D433Y variant (also known as c.1297G>T), located in coding exon 10 of the DSG2 gene, results from a G to T substitution at nucleotide position 1297. The aspartic acid at codon 433 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Color Health, Inc RCV000772656 SCV000905915 uncertain significance Cardiomyopathy 2018-10-28 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the extracellular cadherin domain 4 of the DSG2 protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact 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 is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.

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