ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73390C>T (p.Arg24464Trp)

gnomAD frequency: 0.00001  dbSNP: rs369098292
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152219 SCV000200997 uncertain significance not specified 2014-11-17 criteria provided, single submitter clinical testing The p.Arg21896Trp variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/3828 of African American chro mosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/ ; dbSNP rs369098292). Computational prediction tools and conservation analysis s uggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significa nce of the p.Arg21896Trp variant is uncertain.
Ambry Genetics RCV002336304 SCV002636590 uncertain significance Cardiovascular phenotype 2020-03-17 criteria provided, single submitter clinical testing The p.R15399W variant (also known as c.46195C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 46195. The arginine at codon 15399 is replaced by tryptophan, an amino acid with dissimilar 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.