ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.968A>G (p.Glu323Gly) (rs1064795408)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486582 SCV000571177 uncertain significance not provided 2016-07-29 criteria provided, single submitter clinical testing A novel variant of uncertain significance has been identified in the DSP gene. The E323G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E323G variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E323G 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, and this substitution occurs at a position that is conserved across species. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, there are no functional studies or segregation data available to clarify the role of this variant in disease.

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