ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)

gnomAD frequency: 0.00001  dbSNP: rs758732081
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666092 SCV000790332 likely pathogenic Bardet-Biedl syndrome 10 2017-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000666092 SCV000893984 likely pathogenic Bardet-Biedl syndrome 10 2021-08-31 criteria provided, single submitter clinical testing
Mendelics RCV000666092 SCV001138771 pathogenic Bardet-Biedl syndrome 10 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001038400 SCV001201867 pathogenic Bardet-Biedl syndrome 2023-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln284*) in the BBS10 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 440 amino acid(s) of the BBS10 protein. This variant is present in population databases (rs758732081, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 24611592). ClinVar contains an entry for this variant (Variation ID: 551120). This variant disrupts a region of the BBS10 protein in which other variant(s) (p.Val707*) have been determined to be pathogenic (PMID: 20472660, 22773737, 25982971, 27486776). 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 RCV000666092 SCV004217428 pathogenic Bardet-Biedl syndrome 10 2023-09-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000666092 SCV001462854 pathogenic Bardet-Biedl syndrome 10 2020-09-16 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.