ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32449G>A (p.Glu10817Lys)

dbSNP: rs876658053
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 RCV000216869 SCV000272626 uncertain significance not specified 2015-03-30 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Glu9573Lys va riant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Glutamic acid (Glu) at position 9573 is not con served in mammals or evolutionarily distant species and >10 bird and reptile spe cies carry a lysine (Lys) at this position, raising the possibility that this ch ange may be tolerated. In summary, while the clinical significance of the p.Glu9 573Lys variant is uncertain, the presence of the variant amino acid in multiple other species suggests it is more likely to be benign.

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.