ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys) (rs369933152)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000039866 SCV000238211 likely benign not specified 2017-10-11 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.
Invitae RCV000539374 SCV000642704 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039866 SCV000063557 uncertain significance not specified 2012-11-19 criteria provided, single submitter clinical testing The Arg3756Cys variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant has been identified in 3/3724 Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest th at this variant may impact the protein, though this information is not predictiv e enough to determine pathogenicity. Additional information is needed to fully a ssess the clinical significance of the Arg3756Cys variant.

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