ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.950A>G (p.Tyr317Cys)

dbSNP: rs1597016660
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 RCV000803214 SCV000943076 pathogenic Bardet-Biedl syndrome 2024-01-21 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 317 of the BBS2 protein (p.Tyr317Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of Bardet-Biedl syndrome (PMID: 21344540; Invitae). ClinVar contains an entry for this variant (Variation ID: 648475). 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 BBS2 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001825586 SCV002089288 uncertain significance Bardet-Biedl syndrome 2 2021-09-16 no assertion criteria provided 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.