ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64589C>T (p.Thr21530Ile)

dbSNP: rs397517659
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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 RCV000040481 SCV000064172 uncertain significance not specified 2012-03-06 criteria provided, single submitter clinical testing The Thr18962Ile variant (TTN) has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide stron g support for or against an impact to the protein. Additional information is nee ded to fully assess the clinical significance of this variant.

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