ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.341del (p.Leu114fs)

dbSNP: rs750258633
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
Invitae RCV000702302 SCV000831151 pathogenic Bardet-Biedl syndrome 2023-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu114Trpfs*28) in the BBS4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS4 are known to be pathogenic (PMID: 11381270, 12016587, 20177705, 27894351). This variant is present in population databases (rs750258633, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome however it did not segregate with disease in the family and a second BBS4 variant was not identified (PMID: 19402160). ClinVar contains an entry for this variant (Variation ID: 579105). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003460976 SCV004214081 likely pathogenic Bardet-Biedl syndrome 4 2023-09-25 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.