ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99668G>A (p.Arg33223His) (rs369081242)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040887 SCV000064578 uncertain significance not specified 2012-10-31 criteria provided, single submitter clinical testing The Arg30655His variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has been identified in 1/3738 A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS). Computational analyses (biochemica l amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not pr ovide strong support for or against an impact to the protein. In summary, additi onal information is needed to fully assess the clinical significance of the Arg3 0655His variant.
GeneDx RCV001697105 SCV000714774 likely benign not provided 2018-08-30 criteria provided, single submitter clinical testing

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