ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2422C>T (p.Arg808Cys)

gnomAD frequency: 0.00003  dbSNP: rs149155733
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155014 SCV000204697 uncertain significance not specified 2015-04-08 criteria provided, single submitter clinical testing The p.Arg808Cys variant in TTN gene has been identified by our laboratory in 1 H ispanic infant with CHD and coarctation of the aorta. It also has been identifie d in 1/66726 European chromosomes and 1/10404 African chromosomes by the Exome A ggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs149155733). Computational prediction tools and conservation analysis suggest that this vari ant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg808Cy s variant is uncertain.
GeneDx RCV000727836 SCV000237415 likely benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727836 SCV000855269 uncertain significance not provided 2018-08-29 criteria provided, single submitter clinical testing

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