ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg)

gnomAD frequency: 0.00001  dbSNP: rs749746650
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000225460 SCV001240591 likely pathogenic Retinal dystrophy 2017-11-08 criteria provided, single submitter clinical testing
Invitae RCV002516254 SCV003523994 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-01-11 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 945 of the CRB1 protein (p.Gly945Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with inherited retinal disease (PMID: 27208204). ClinVar contains an entry for this variant (Variation ID: 236475). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225460 SCV000282581 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing

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