ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1483_1485delinsTTT (p.Val495Phe) (rs1064795582)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480664 SCV000571533 uncertain significance not provided 2016-08-29 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DSP gene. The c.1483_1485delGTGinsTTT variant hasnot been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. Thisvariant was not observed in approximately 6,500 individuals of European and African American ancestry in theNHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.c.1483_1485delGTGinsTTT results in an in-frame deletion of one amino acid, Valine 495, and insertion of aPhenylalanine residue, denoted p.V495F. The V495F variant is a semi-conservative amino acid substitution, whichmay impact secondary protein structure as these residues differ in some properties. Moreover, this substitution occursat a position that is conserved across species. Consequently, in silico analysis predicts this variant is probablydamaging to the protein structure/function.Therefore, additional evidence is needed to determine whether this variant is pathogenic or benign.

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