ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2806G>A (p.Gly936Arg)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002970730 SCV003281229 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-10-05 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 936 of the CRB1 protein (p.Gly936Arg). This variant is present in population databases (rs181410446, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. 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.
Ambry Genetics RCV003274102 SCV003962873 uncertain significance Inborn genetic diseases 2023-04-20 criteria provided, single submitter clinical testing The c.2806G>A (p.G936R) alteration is located in exon 8 (coding exon 8) of the CRB1 gene. This alteration results from a G to A substitution at nucleotide position 2806, causing the glycine (G) at amino acid position 936 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003455627 SCV004180079 uncertain significance Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455628 SCV004180080 uncertain significance Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455626 SCV004180082 uncertain significance Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing

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