ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)

gnomAD frequency: 0.00001  dbSNP: rs201063733
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668757 SCV000793407 likely pathogenic Bardet-Biedl syndrome 2 2017-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000806329 SCV000946320 pathogenic Bardet-Biedl syndrome 2023-08-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ser605*) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252, 20177705, 24608809, 26518167). This variant is present in population databases (rs201063733, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with BBS2-related conditions (PMID: 25999675, 27659767). ClinVar contains an entry for this variant (Variation ID: 553335).
Fulgent Genetics, Fulgent Genetics RCV002507165 SCV002811616 pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-12-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000668757 SCV004214033 pathogenic Bardet-Biedl syndrome 2 2023-05-13 criteria provided, single submitter clinical testing
Department of Pediatrics, National Cheng-Kung University Hospital RCV000668757 SCV004042815 pathogenic Bardet-Biedl syndrome 2 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.