ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52004G>A (p.Arg17335His) (rs367603302)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000725162 SCV000237275 likely benign not provided 2019-06-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213905 SCV000272677 uncertain significance not specified 2015-04-23 criteria provided, single submitter clinical testing The p.Arg14767His variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/9444 of African chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs367603302). Computational prediction tools and conservation analysis suggest t hat this variant may not impact the protein, though this information is not pred ictive enough to rule out pathogenicity. In summary, the clinical significance o f the p.Arg14767His variant is uncertain.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725162 SCV000334579 uncertain significance not provided 2015-09-14 criteria provided, single submitter clinical testing
Invitae RCV001086306 SCV000764950 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-18 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.