ClinVar Miner

Submissions for variant NM_003466.4(PAX8):c.754C>G (p.Pro252Ala)

gnomAD frequency: 0.00002  dbSNP: rs768835143
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001903444 SCV002171554 uncertain significance not provided 2021-08-09 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with PAX8-related conditions. This variant is present in population databases (rs768835143, ExAC 0.03%). This sequence change replaces proline with alanine at codon 252 of the PAX8 protein (p.Pro252Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine.
Revvity Omics, Revvity RCV003485743 SCV004235720 uncertain significance Hypothyroidism, congenital, nongoitrous, 2 2023-05-12 criteria provided, single submitter clinical testing

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.