ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9031A>G (p.Thr3011Ala)

dbSNP: rs727504682
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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 RCV000155953 SCV000205665 uncertain significance not specified 2013-08-22 criteria provided, single submitter clinical testing The Thr3011Ala variant in TTN has not been reported in individuals with cardiomy opathy or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide s trong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Thr3011Ala variant.

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