ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93725G>A (p.Arg31242His) (rs369899675)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000152187 SCV000237779 likely benign not specified 2016-06-17 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 RCV000152187 SCV000200926 uncertain significance not specified 2014-03-14 criteria provided, single submitter clinical testing The Arg28674His variant in TTN has not been reported in individuals with cardiom yopathy, but has been identified in 1/8312 European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. Additional information is needed to fully ass ess the clinical significance of the Arg28674His variant.

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