ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49649-11T>C (rs727504474)

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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 RCV000155602 SCV000205310 uncertain significance not specified 2013-04-02 criteria provided, single submitter clinical testing The 41945-11T>C variant in TTN has been identified by our laboratory in 1 infant with DCM (LMM unpublished data). This variant has not been identified in large European American and African American populations by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/), though it may be present in other populations. It is located in the 3' splice region. Computational tools do not s uggest an impact to splicing, though this information is not predictive enough t o rule out pathogenicity. Additional information is needed to fully assess the c linical significance of this variant.
GeneDx RCV000155602 SCV000725615 likely benign not specified 2017-12-05 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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