ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51547A>T (p.Ile17183Phe)

dbSNP: rs397517605
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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 RCV000040325 SCV000064016 uncertain significance not specified 2012-08-16 criteria provided, single submitter clinical testing The Ile14615Phe variant in TTN has not been reported in the literature nor previ ously 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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