ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.2237T>C (p.Leu746Pro) (rs745959376)

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
Illumina Clinical Services Laboratory,Illumina RCV000279246 SCV000389583 uncertain significance Achondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000793388 SCV000932737 uncertain significance Achondrogenesis, type IA 2018-11-26 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 746 of the TRIP11 protein (p.Leu746Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs745959376, ExAC 0.2%). This variant has not been reported in the literature in individuals with TRIP11-related disease. ClinVar contains an entry for this variant (Variation ID: 314962). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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.