ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6325G>A (p.Glu2109Lys) (rs397516951)

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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 RCV000038073 SCV000061739 uncertain significance not specified 2012-05-03 criteria provided, single submitter clinical testing The Glu2109Lys variant in DSP has not been reported in the literature and has no t been detected in a large and broad population screened by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS). This variant has been identi fied in 1 individual with DCM tested by our laboratory. Computational analyses ( biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. The low population frequency of this variant supports a pathogenic role but is insuffici ent to establish this with certainty. Additional information is needed to fully assess the clinical significance of the Glu2109Lys variant.

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