ClinVar Miner

Submissions for variant NM_181457.3(PAX3):c.242G>C (p.Gly81Ala)

dbSNP: rs587776586
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
Invitae RCV002512755 SCV003524997 pathogenic not provided 2023-07-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change does not substantially affect PAX3 function (PMID: 9302254). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PAX3 protein function. ClinVar contains an entry for this variant (Variation ID: 4210). This variant is also known as G48A. This missense change has been observed in individual(s) with autosomal dominant Waardenburg syndrome (PMID: 8490648). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 81 of the PAX3 protein (p.Gly81Ala).
OMIM RCV000004430 SCV000024603 pathogenic Waardenburg syndrome type 1 1995-11-01 no assertion criteria provided literature only

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.