ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) (rs760430056)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064707 SCV001229622 pathogenic not provided 2020-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu849Alafs*3) in the CNGB1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs760430056, ExAC 0.006%). This variant has been observed in individual(s) with inherited retinal disease (PMID: 26667666, 28056120, 26894784). ClinVar contains an entry for this variant (Variation ID: 236511). Loss-of-function variants in CNGB1 are known to be pathogenic (PMID: 15557452, 24043777). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV000225473 SCV001239898 pathogenic Retinal dystrophy 2019-07-09 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000225473 SCV000282621 likely pathogenic Retinal dystrophy 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.