ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49366C>T (p.Arg16456Cys) (rs727504986)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839534 SCV000981435 likely benign not provided 2018-05-23 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 RCV000156403 SCV000206121 uncertain significance not specified 2014-03-19 criteria provided, single submitter clinical testing The Arg13888Cys variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. Additional information is needed to fully assess the clinical significance of the variant.

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