ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.76565T>C (p.Ile25522Thr)

gnomAD frequency: 0.00001  dbSNP: rs372963832
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, Mass General Brigham Personalized Medicine RCV000154917 SCV000204599 uncertain significance not specified 2013-04-30 criteria provided, single submitter clinical testing The Ile22954Thr variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/3692 African American chromosom es by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). C omputational analyses (biochemical amino acid properties, conservation, AlignGVG D, PolyPhen2, and SIFT) do not provide strong support for or against an impact t o the normal function of the TTN protein. In summary, additional information is needed to fully assess the clinical significance of this variant.
Athena Diagnostics Inc RCV001289392 SCV001477167 uncertain significance not provided 2020-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336326 SCV002640909 uncertain significance Cardiovascular phenotype 2019-08-15 criteria provided, single submitter clinical testing The p.I16457T variant (also known as c.49370T>C), located in coding exon 153 of the TTN gene, results from a T to C substitution at nucleotide position 49370. The isoleucine at codon 16457 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well 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.