ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.5486C>T (p.Thr1829Ile)

gnomAD frequency: 0.00001  dbSNP: rs1256584749
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
Invitae RCV002015604 SCV002294638 uncertain significance Achondrogenesis, type IA 2021-09-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 1829 of the TRIP11 protein (p.Thr1829Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine.

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.