ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)

gnomAD frequency: 0.00003  dbSNP: rs767648174
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069480 SCV001234648 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 770 of the CRB1 protein (p.Gly770Ser). This variant is present in population databases (rs767648174, gnomAD 0.007%). This missense change has been observed in individual(s) with early-onset severe retinal dystrophy and/or retinitis pigmentosa (PMID: 27113771, 27208204, 28559085, 30576320). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 236478). 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 95%. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV000225453 SCV001240763 likely pathogenic Retinal dystrophy 2018-10-05 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376283 SCV001573371 likely pathogenic Retinitis pigmentosa 12 2021-04-08 criteria provided, single submitter research The CRB1 c.2308G>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: PM2, PP3, PM1, PM3-S. Based on this evidence we have classified this variant as Likely Pathogenic.
Genome-Nilou Lab RCV003454681 SCV004180037 likely pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454682 SCV004180038 likely pathogenic Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001376283 SCV004180039 likely pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003454681 SCV004211140 pathogenic Leber congenital amaurosis 8 2023-09-08 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV000225453 SCV004706097 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225453 SCV000282584 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing
Natera, Inc. RCV001833240 SCV002090174 pathogenic Leber congenital amaurosis 2020-08-25 no assertion criteria provided clinical testing

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