ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2714A>C (p.Glu905Ala) (rs1555628237)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520857 SCV000619838 uncertain significance not provided 2017-08-07 criteria provided, single submitter clinical testing The E905A variant of uncertain significance in the DSG2 gene has not been published as pathogenic or been reported as benign to our knowledge. E905A is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E905A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Moreover, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, no pathogenic missense variants in nearby residues have been reported in the Human Gene Mutation Database (Stenson et al., 2014), indicating that this region of the gene is not known to harbor disease-causing variants.

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