ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly) (rs397517607)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727140 SCV000706087 uncertain significance not provided 2017-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000040330 SCV000721000 likely benign not specified 2017-07-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040330 SCV000064021 uncertain significance not specified 2012-08-22 criteria provided, single submitter clinical testing The Arg14814Gly variant in TTN has not been reported in the literature nor previ ously identified in our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the va riant may impact the protein, though this information is not predictive enough t o determine pathogenicity. Additional studies are needed to fully assess the cli nical significance of this variant.

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