ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52181T>C (p.Leu17394Pro)

gnomAD frequency: 0.00001  dbSNP: rs727503616
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 RCV000152331 SCV000201223 uncertain significance not specified 2014-11-17 criteria provided, single submitter clinical testing The p.Leu14826Pro variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis suggest that the p.Leu14826Pro variant may impact the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of the p.Leu14826Pro 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.