ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys)

dbSNP: rs574162883
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224385 SCV001396575 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 947 of the CRB1 protein (p.Glu947Lys). This variant is present in population databases (rs574162883, gnomAD 0.06%). This missense change has been observed in individuals with autosomal recessive retinitis pigmentosa (PMID: 28041643, 32581362). ClinVar contains an entry for this variant (Variation ID: 438077). 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 not expected to disrupt CRB1 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 RCV002481631 SCV002784584 uncertain significance Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-05-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449437 SCV004180086 uncertain significance Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449438 SCV004180087 uncertain significance Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449436 SCV004180088 uncertain significance Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504704 SCV000598918 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Natera, Inc. RCV001834628 SCV002090189 uncertain significance Leber congenital amaurosis 2020-01-15 no assertion criteria provided clinical testing

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