ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln)

gnomAD frequency: 0.00004  dbSNP: rs530046423
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243452 SCV001416612 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-10-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 744 of the CRB1 protein (p.Arg744Gln). This variant is present in population databases (rs530046423, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 968342). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002491813 SCV002778581 uncertain significance Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449764 SCV004180018 uncertain significance Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449765 SCV004180019 uncertain significance Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449763 SCV004180020 uncertain significance Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829032 SCV002090163 uncertain significance Leber congenital amaurosis 2020-02-05 no assertion criteria provided clinical testing

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