ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106445C>G (p.Thr35482Ser)

dbSNP: rs397517799
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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, Mass General Brigham Personalized Medicine RCV000040974 SCV000064665 uncertain significance not specified 2012-04-13 criteria provided, single submitter clinical testing The Thr32914Ser variant (TTN) has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide stro ng support for or against an impact to the protein. Additional information is ne eded to fully assess the clinical significance of this variant.

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