ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.425C>T (p.Thr142Ile)

gnomAD frequency: 0.00001  dbSNP: rs377127854
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 RCV001322518 SCV001513392 uncertain significance not provided 2020-07-08 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 142 of the PCARE protein (p.Thr142Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs377127854, ExAC 0.001%). This variant has not been reported in the literature in individuals with PCARE-related conditions. 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.