ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.20_23del (p.Asn7fs)

dbSNP: rs2125193925
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001698682 SCV001916507 pathogenic Retinitis pigmentosa 2021-09-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002538622 SCV003338860 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn7Thrfs*15) in the CRB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1283919). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003451849 SCV004178790 pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451848 SCV004178791 pathogenic Retinitis pigmentosa 12 2023-04-11 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.