ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)

gnomAD frequency: 0.00003  dbSNP: rs62636275
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000086341 SCV000321519 pathogenic not provided 2024-04-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 16543197, 20956273, 22065545, 23449718, 26147992, 25133751, 17964524, 17724218, 19140180, 15024725, 31054281, 31456290, 31589614, 33441055, 35119454, 34884448, 33921607)
Eurofins Ntd Llc (ga) RCV000086341 SCV000339784 pathogenic not provided 2016-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000648818 SCV000770639 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1103 of the CRB1 protein (p.Gly1103Arg). This variant is present in population databases (rs62636275, gnomAD 0.005%). This missense change has been observed in individuals with Leber congenital amaurosis or retinitis pigmentosa (PMID: 16543197, 19140180, 23449718). It is commonly reported in individuals of Israeli and Palestinian ancestry (PMID: 23449718). ClinVar contains an entry for this variant (Variation ID: 5739). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CRB1 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001073404 SCV001238945 pathogenic Retinal dystrophy 2019-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000006093 SCV004180144 pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450617 SCV004180145 pathogenic Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000006094 SCV004180146 pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000006093 SCV004211137 pathogenic Leber congenital amaurosis 8 2024-02-15 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000006094 SCV004801139 pathogenic Retinitis pigmentosa 12 2024-03-14 criteria provided, single submitter research
OMIM RCV000006093 SCV000026275 pathogenic Leber congenital amaurosis 8 2009-02-15 no assertion criteria provided literature only
OMIM RCV000006094 SCV000026276 pathogenic Retinitis pigmentosa 12 2009-02-15 no assertion criteria provided literature only
Retina International RCV000086341 SCV000118487 not provided not provided no assertion provided not provided
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000786009 SCV000924649 pathogenic Early-onset retinal dystrophy 2017-12-13 no assertion criteria provided research
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002998 SCV001161052 pathogenic Leber congenital amaurosis 2019-06-23 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV000006093 SCV001425486 pathogenic Leber congenital amaurosis 8 no assertion criteria provided research
Natera, Inc. RCV001002998 SCV001460950 pathogenic Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000648818 SCV001749793 not provided Retinitis pigmentosa 12; Leber congenital amaurosis 8 no assertion provided phenotyping only Variant reported in multiple Invitae PIN participants. Variant interpreted as Pathogenic and reported most recently on 11-23-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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