ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2842+5G>A

gnomAD frequency: 0.00001  dbSNP: rs773914330
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310547 SCV001500398 likely pathogenic not provided 2021-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857211 SCV002221334 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-11-14 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the CRB1 gene. It does not directly change the encoded amino acid sequence of the CRB1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs773914330, gnomAD 0.007%). This variant has been observed in individuals with autosomal recessive inherited retinal dystrophy (PMID: 10508521, 20683928, 28341475). This variant is also known as 2978+5G‚ÜíA. ClinVar contains an entry for this variant (Variation ID: 438078). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001250645 SCV004172606 likely pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446102 SCV004172607 likely pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001250645 SCV004211216 pathogenic Leber congenital amaurosis 8 2023-03-21 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000504958 SCV005069588 likely pathogenic Retinal dystrophy 2018-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010447 SCV005637475 likely pathogenic Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-03-27 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504958 SCV000598919 uncertain significance Retinal dystrophy 2015-01-01 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250645 SCV001425516 likely 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.