ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.107G>C (p.Gly36Ala) (rs778506459)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486571 SCV000570301 uncertain significance not provided 2017-05-09 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DSP gene. The G36A variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). However, the G36A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species and where alanine is present as the wild type in at least one species. Finally, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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