ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys) (rs113967308)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519543 SCV000619992 uncertain significance not provided 2018-07-16 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DSP gene. The Y763C variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 0.1% alleles from individuals of African ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Nevertheless, the Y763C 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. This substitution occurs at a position that is conserved across species, and in silico analysis suggests that this variant is probably damaging to the protein structure/function.

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