ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16157T>C (p.Met5386Thr) (rs375417155)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184191 SCV000236812 likely benign not specified 2012-10-19 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 RCV000184191 SCV000272585 uncertain significance not specified 2015-05-14 criteria provided, single submitter clinical testing The p.Met4142Thr variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 3/66312 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 375417155). Computational prediction tools and conservation analysis do not prov ide strong support for or against an impact to the protein. In summary, the clin ical significance of the p.Met4142Thr variant is uncertain.

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