ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57292G>A (p.Val19098Ile)

gnomAD frequency: 0.00002  dbSNP: rs727503592
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 RCV000152283 SCV000201140 uncertain significance not specified 2014-03-21 criteria provided, single submitter clinical testing The Val16530Ile variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational prediction tools and conse rvation analysis suggest that this variant may impact the protein, though this i nformation is not predictive enough to determine pathogenicity. Additional infor mation is needed to fully assess the clinical significance of the Val16530Ile va riant.

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.