ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39089C>A (p.Ala13030Glu)

dbSNP: rs747459623
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000456 SCV001157294 uncertain significance not specified 2018-07-05 criteria provided, single submitter clinical testing The TTN c.31787C>A; p.Ala10596Glu variant, to our knowledge, is not reported in the medical literature or gene specific databases. It is rare in the general population (not found in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The Ala at codon 10596 is not conserved. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p. Ala10596Glu variant cannot be determined with certainty.

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.