ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52330C>T (p.Arg17444Cys)

gnomAD frequency: 0.00001  dbSNP: rs778094750
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215012 SCV000272680 uncertain significance not specified 2015-03-04 criteria provided, single submitter clinical testing The p.Arg14876Cys variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/61914 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computa tional prediction tools and conservation analysis suggest that the p.Arg14876Cys variant may impact the protein, though this information is not predictive enoug h to determine pathogenicity. In summary, the clinical significance of the p.Arg 14876Cys variant is uncertain.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.