ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys)

gnomAD frequency: 0.00011  dbSNP: rs779666225
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695543 SCV000824050 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-08-22 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 825 of the CEP290 protein (p.Glu825Lys). 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 variant has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 573786). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002507211 SCV002814593 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-02-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825361 SCV002094286 uncertain significance Leber congenital amaurosis 2020-02-29 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733004 SCV005344531 uncertain significance CEP290-related disorder 2024-09-16 no assertion criteria provided clinical testing The CEP290 c.2473G>A variant is predicted to result in the amino acid substitution p.Glu825Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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