ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84095C>A (p.Thr28032Asn)

dbSNP: rs876658087
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 RCV000221511 SCV000272782 uncertain significance not specified 2015-08-12 criteria provided, single submitter clinical testing The p.Thr25464Asn variant in TTN has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Threonine (Th r) at position 2564 is not conserved in evolution and 1 mammal (armadillo) as we ll as several lower species carry an asparagine (Asn) at this position, raising the possibility that this change may be tolerated. In summary, the clinical sign ificance of the p.Thr25464Asn 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.