ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.376G>A (p.Ala126Thr)

dbSNP: rs2110435645
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002016656 SCV002306376 uncertain significance Axenfeld-Rieger syndrome type 1; Anterior segment dysgenesis 4 2021-08-05 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with Axenfeld-Rieger syndrome (PMID: 30457409; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 73 of the PITX2 protein (p.Ala73Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. 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 disruptive. 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.