ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr) (rs191699632)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152356 SCV000201275 uncertain significance not specified 2014-05-01 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala11067Thr var iant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.1% (4/3620) of African American chromosomes by the NHLBI Exome Sequencing Project (; dbSNP rs1916 99632). Computational prediction tools and conservation analysis suggest that th e Ala11067Thr variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, while the clinical sig nificance of the Ala11067Thr variant is uncertain, its frequency suggest that it is more likely to be benign.
GeneDx RCV001719941 SCV000237146 likely benign not provided 2020-11-10 criteria provided, single submitter clinical testing
Invitae RCV000556771 SCV000643130 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-05-31 criteria provided, single submitter clinical testing

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.