ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.787T>C (p.Tyr263His)

gnomAD frequency: 0.00014  dbSNP: rs150040166
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665676 SCV000789835 uncertain significance Bardet-Biedl syndrome 12 2017-02-22 criteria provided, single submitter clinical testing
Invitae RCV001307943 SCV001497372 uncertain significance Bardet-Biedl syndrome 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 263 of the BBS12 protein (p.Tyr263His). This variant is present in population databases (rs150040166, gnomAD 0.05%). This missense change has been observed in individual(s) with clinical features of Bardet-Biedl syndrome (PMID: 20472660). ClinVar contains an entry for this variant (Variation ID: 550824). 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 not expected to disrupt BBS12 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV000665676 SCV002817089 uncertain significance Bardet-Biedl syndrome 12 2022-04-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907928 SCV004724444 uncertain significance BBS12-related condition 2024-01-11 criteria provided, single submitter clinical testing The BBS12 c.787T>C variant is predicted to result in the amino acid substitution p.Tyr263His. This variant was previously reported as an additional variant in a patient who presented with Bardet-Biedl syndrome; however, that individual already carried plausible causative variants in BBS10 (Billingsley et al. 2010. PubMed ID: 20472660). This variant is reported in 0.056% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV000665676 SCV002082489 uncertain significance Bardet-Biedl syndrome 12 2020-02-06 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.