ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)

gnomAD frequency: 0.00004  dbSNP: rs62636273
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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000086328 SCV000232816 pathogenic not provided 2014-09-02 criteria provided, single submitter clinical testing
GeneDx RCV000086328 SCV000576655 pathogenic not provided 2023-07-01 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 15024725, 34003923, 25525159, 28041643, 29391521, 28559085, 20956273, 31875109, 32036094, 32581362, 31589614, 32037395, 35119454)
Molecular Medicine, University of Leeds RCV000505142 SCV000611554 pathogenic Macular dystrophy 2017-10-27 criteria provided, single submitter research
Invitae RCV000542027 SCV000650637 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys896*) 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 present in population databases (rs62636273, gnomAD 0.009%). This premature translational stop signal has been observed in individuals with Leber congenital amaurosis, early-onset retinal dystrophy, and retinitis pigmentosa (PMID: 15024725, 20683928, 20956273, 23379534). ClinVar contains an entry for this variant (Variation ID: 99888). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074017 SCV001239583 pathogenic Retinal dystrophy 2018-10-18 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376474 SCV001573628 pathogenic Retinitis pigmentosa 12 2021-04-08 criteria provided, single submitter research The CRB1 c.2688T>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PP5. Based on this evidence we have classified this variant as Pathogenic.
Broad Institute Rare Disease Group, Broad Institute RCV001723672 SCV001950250 pathogenic Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Cys896Ter variant in CRB1 was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PP5. Based on this evidence we have classified this variant as Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab.
Revvity Omics, Revvity Omics RCV000086328 SCV002019727 pathogenic not provided 2020-06-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001250608 SCV004180069 pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453019 SCV004180071 pathogenic Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001376474 SCV004180072 pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001250608 SCV004211105 pathogenic Leber congenital amaurosis 8 2023-10-25 criteria provided, single submitter clinical testing
Retina International RCV000086328 SCV000118474 not provided not provided no assertion provided not provided
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505142 SCV000598917 pathogenic Macular dystrophy 2015-01-01 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250608 SCV001425476 pathogenic Leber congenital amaurosis 8 no assertion criteria provided research
Natera, Inc. RCV001275654 SCV001460945 pathogenic Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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