ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn) (rs199597935)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171921 SCV000050920 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000171921 SCV000569438 uncertain significance not provided 2016-02-24 criteria provided, single submitter clinical testing The S2606N variant in the DSP gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S2606N variant was not observed in approximately 6,500 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 S2606N 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 conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S2606N as a variant of uncertain significance.

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