ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52927C>T (p.Arg17643Trp) (rs375944265)

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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 RCV000214437 SCV000272683 uncertain significance not specified 2016-03-18 criteria provided, single submitter clinical testing The p.Arg15075Trp variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 6/9798 African chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs3 75944265).Computational prediction tools and conservation analysis suggest that the p.Arg15075Trp variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical signific ance of the p.Arg15075Trp variant is uncertain.
GeneDx RCV000214437 SCV000726906 likely benign not specified 2018-01-15 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.

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