ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.1108C>T (p.Leu370Phe) (rs397517870)

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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 RCV000041237 SCV000064928 uncertain significance not specified 2012-07-31 criteria provided, single submitter clinical testing The Leu370Phe SPRED1 variant has not previously been identified in our laborator y, or in the literature. Computational analyses (biochemical amino acid properti es, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional information is n eeded to fully assess the clinical significance of the Leu370Phe SPRED1 variant.

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