ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45895+1G>A

dbSNP: rs727504589
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 RCV000155762 SCV000205473 likely pathogenic Primary dilated cardiomyopathy 2014-01-28 criteria provided, single submitter clinical testing The 38191+1G>A variant in TTN has not been reported in individuals with cardiomy opathy or in large population studies. This variant occurs in the invariant regi on (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Splice and other truncating v ariants in TTN are strongly associated with DCM and the majority occur in the A- band (Herman 2012, LMM unpublished data), while this variant occurs in the I-ban d. In summary, this variant is likely pathogenic, though additional studies are required to fully establish its clinical significance.

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.