ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21755C>T (p.Thr7252Ile)

dbSNP: rs375714080
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 RCV000154978 SCV000204660 uncertain significance not specified 2014-09-25 criteria provided, single submitter clinical testing The Thr6008Ile variant in TTN has not been previously reported in individuals wi th cardiomyopathy, but has been identified in 1/8192 European American chromosom es by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbS NP rs375714080). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein, though 1 specie s (frog) carries an isoleucine (Ile) at this position raising the possibility th at this change may be tolerated. In summary, the clinical significance of the Th r6008Ile 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.