ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.653-1G>A

dbSNP: rs760287363
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380026 SCV001577953 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-06-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1068463). Disruption of this splice site has been observed in individuals with retinitis pigmentosa (PMID: 30902645). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 2 of the CRB1 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 CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521).
DBGen Ocular Genomics RCV001587386 SCV001816091 pathogenic Retinitis pigmentosa 12 2021-06-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003319471 SCV004172591 pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001587386 SCV004172592 pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003319471 SCV005058567 likely pathogenic Leber congenital amaurosis 8 2023-11-20 criteria provided, single submitter clinical testing
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV003319471 SCV004023373 pathogenic Leber congenital amaurosis 8 no assertion criteria provided research

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.