ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6885A>T (p.Gln2295His) (rs397516954)

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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 RCV000038080 SCV000061746 uncertain significance not specified 2012-07-18 criteria provided, single submitter clinical testing The Gln2295His variant in DSP has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, PolyPhen2, and SIFT) suggest that the Gln2295His va riant may impact the protein, though this information is not predictive enough t o determine pathogenicity. Additional information is needed to fully assess the clinical significance of the Gln2295His variant.

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