ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2252G>A (p.Arg751Gln)

dbSNP: rs1360220092
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001035584 SCV001198917 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-08-09 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 751 of the CEP290 protein (p.Arg751Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with non-syndromic retinal dystrophy (PMID: 34196655). ClinVar contains an entry for this variant (Variation ID: 834820). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
PreventionGenetics, part of Exact Sciences RCV004536062 SCV004115559 uncertain significance CEP290-related disorder 2023-08-14 criteria provided, single submitter clinical testing The CEP290 c.2252G>A variant is predicted to result in the amino acid substitution p.Arg751Gln. This variant has been reported in an individual with nonsyndromic retinal dystrophy (Table 2, Testa et al. 2021. PubMed ID: 34196655). This variant is reported in 0.0012% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-88505094-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001827214 SCV002094296 uncertain significance Leber congenital amaurosis 2021-03-11 no assertion criteria provided clinical testing

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