ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.844G>A (p.Glu282Lys) (rs397516966)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038103 SCV000061769 uncertain significance not specified 2013-03-06 criteria provided, single submitter clinical testing The Glu282Lys variant in DSP has not been reported in the literature nor previou sly identified by our laboratory. This variant has also not been identified in l arge and broad European American and African American populations by the NHLBI E xome Sequencing Project (, though it may be co mmon in other populations. Computational analyses (biochemical amino acid proper ties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong suppor t for or against an impact to the protein. Additional studies are needed to full y assess its clinical significance.

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