ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.76+1G>T

dbSNP: rs1465437164
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 RCV000735932 SCV002263611 pathogenic Bardet-Biedl syndrome 2023-11-06 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the BBS4 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BBS4 are known to be pathogenic (PMID: 11381270, 12016587, 20177705, 27894351). This variant is present in population databases (no rsID available, gnomAD 0.0009%). Disruption of this splice site has been observed in individuals with clinical features of Bardet-Biedl syndrome (PMID: 30614526; Invitae). ClinVar contains an entry for this variant (Variation ID: 585186). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV000735932 SCV000839569 pathogenic Bardet-Biedl syndrome 2018-09-15 no assertion criteria provided provider interpretation

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.