ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter)

gnomAD frequency: 0.00003  dbSNP: rs137852856
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000002776 SCV002779593 pathogenic Bardet-Biedl syndrome 9 2024-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000735941 SCV003439923 pathogenic Bardet-Biedl syndrome 2023-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg598*) in the BBS9 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS9 are known to be pathogenic (PMID: 16380913, 20177705). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 16380913, 30614526). ClinVar contains an entry for this variant (Variation ID: 2657). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000002776 SCV004214219 pathogenic Bardet-Biedl syndrome 9 2022-09-13 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Medical University of Lodz RCV000002776 SCV005414531 pathogenic Bardet-Biedl syndrome 9 2024-11-27 criteria provided, single submitter clinical testing The stop variant causes Bardet-Biedl syndrome.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV004813029 SCV005438130 likely pathogenic Nephronophthisis 4 2024-12-17 criteria provided, single submitter clinical testing
OMIM RCV000002776 SCV000022934 pathogenic Bardet-Biedl syndrome 9 2005-12-01 no assertion criteria provided literature only
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV000735941 SCV000839582 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.