ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.75833G>A (p.Arg25278His)

gnomAD frequency: 0.00011  dbSNP: rs769729114
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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 RCV000218065 SCV000272761 uncertain significance not specified 2015-08-27 criteria provided, single submitter clinical testing The p.Arg22710His variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 3/66242 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Comput ational prediction tools and conservation analysis suggest that the p.Arg22710Hi s variant may impact the protein, though this information is not predictive enou gh to determine pathogenicity. In summary, the clinical significance of the p.Ar g22710His variant is uncertain.
Eurofins Ntd Llc (ga) RCV000734996 SCV000863183 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing

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.