ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96389C>T (p.Thr32130Met)

gnomAD frequency: 0.00006  dbSNP: rs368998895
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 RCV000842571 SCV000984595 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002372382 SCV002667449 uncertain significance Cardiovascular phenotype 2019-12-27 criteria provided, single submitter clinical testing The p.T23065M variant (also known as c.69194C>T), located in coding exon 174 of the TTN gene, results from a C to T substitution at nucleotide position 69194. The threonine at codon 23065 is replaced by methionine, 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.