ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53717A>G (p.Lys17906Arg) (rs727503606)

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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 RCV000152316 SCV000201198 uncertain significance not specified 2015-01-20 criteria provided, single submitter clinical testing The p.Lys15338Arg variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/66652 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Comput ational prediction tools and conservation analysis suggest that the variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Lys15338Arg v ariant is uncertain.
GeneDx RCV000152316 SCV000721851 likely benign not specified 2017-08-01 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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