ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)

dbSNP: rs1553941304
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671908 SCV000796941 likely pathogenic Bardet-Biedl syndrome 12 2018-01-05 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075655 SCV001241282 likely pathogenic Retinal dystrophy 2019-03-07 criteria provided, single submitter clinical testing
Invitae RCV001855571 SCV002194393 pathogenic Bardet-Biedl syndrome 2023-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu254*) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 457 amino acid(s) of the BBS12 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BBS12-related conditions. ClinVar contains an entry for this variant (Variation ID: 555983). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant disrupts a region of the BBS12 protein in which other variant(s) (p.Asp687Valfs*3) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000671908 SCV004211663 likely pathogenic Bardet-Biedl syndrome 12 2023-09-29 criteria provided, single submitter 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.