ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.157T>G (p.Ser53Ala) (rs397516918)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037997 SCV000061663 uncertain significance not specified 2012-10-19 criteria provided, single submitter clinical testing The Ser53Ala variant in DSP has not been reported in the literature nor previous ly identified 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. Additional information is neede d to fully assess the clinical significance of the Ser53Ala variant.
Invitae RCV000836078 SCV000288528 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000836078 SCV000977907 likely benign not provided 2018-09-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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