ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2536G>A (p.Gly846Arg)

gnomAD frequency: 0.00001  dbSNP: rs539189291
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963012 SCV002232749 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-09-29 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 846 of the CRB1 protein (p.Gly846Arg). This variant is present in population databases (rs539189291, gnomAD 0.01%). This missense change has been observed in individuals with CRB1-related conditions (PMID: 12573663, 20956273, 28341476). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1455364). 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. For these reasons, this variant has been classified as Pathogenic.
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV004794566 SCV005415474 likely pathogenic Retinal dystrophy 2024-05-27 criteria provided, single submitter research

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