ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro)

dbSNP: rs767150997
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
Department of Genetics, Fundacion Jimenez Diaz University Hospital RCV001270354 SCV001450580 likely pathogenic Retinal dystrophy criteria provided, single submitter clinical testing The variant is present in population databases (gnomAD_exomes 0.004%). Is a missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease. This variant is predicted deleterious by in-silico pathogenicity predictors. This variant cosegregates with the disease in two affected sisters. (ACMG: PM2: Moderate; PP1 Supporting; PP2 Supporting; PP3 Supporting)
Invitae RCV001880202 SCV002126154 uncertain significance Bardet-Biedl syndrome 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 402 of the BBS1 protein (p.Leu402Pro). This variant is present in population databases (rs767150997, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 988658). 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 BBS1 protein function. 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.

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.