ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.76738A>G (p.Thr25580Ala)

gnomAD frequency: 0.00009  dbSNP: rs371711135
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001596635 SCV001831939 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334633 SCV002643929 uncertain significance Cardiovascular phenotype 2018-10-31 criteria provided, single submitter clinical testing The p.T16515A variant (also known as c.49543A>G), located in coding exon 153 of the TTN gene, results from an A to G substitution at nucleotide position 49543. The threonine at codon 16515 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.