ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5846C>T (p.Ser1949Phe) (rs1057524621)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429710 SCV000536092 uncertain significance not provided 2017-01-17 criteria provided, single submitter clinical testing The S1949F variant of uncertain significance in the DSP gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. S1949F was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, nor was it observed in the Exome Aggregation Consortium, indicating it is not a common benign variant in these populations. The S1949F 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 in mammals, 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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