ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.923A>G (p.Tyr308Cys)

gnomAD frequency: 0.00001  dbSNP: rs199831925
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001230623 SCV001403107 uncertain significance Bardet-Biedl syndrome 2023-08-17 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BBS4 protein function. ClinVar contains an entry for this variant (Variation ID: 957617). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. This variant is present in population databases (rs199831925, gnomAD 0.003%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 308 of the BBS4 protein (p.Tyr308Cys).
Fulgent Genetics, Fulgent Genetics RCV002484258 SCV002788993 uncertain significance Bardet-Biedl syndrome 4 2022-04-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004749629 SCV005366999 uncertain significance BBS4-related disorder 2024-07-22 no assertion criteria provided clinical testing The BBS4 c.923A>G variant is predicted to result in the amino acid substitution p.Tyr308Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.