ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg)

gnomAD frequency: 0.00001  dbSNP: rs267603712
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000352755 SCV000341385 uncertain significance not provided 2016-05-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000535460 SCV000634650 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-06-27 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 1276 of the CEP290 protein (p.Gly1276Arg). This variant is present in population databases (rs267603712, gnomAD 0.004%). 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: 79258). 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: "Tolerated"; PolyPhen-2: "Probably 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 RCV002483119 SCV002775247 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-01-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271577 SCV001452843 uncertain significance Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004542738 SCV004794947 uncertain significance CEP290-related disorder 2024-09-23 no assertion criteria provided clinical testing The CEP290 c.3826G>A variant is predicted to result in the amino acid substitution p.Gly1276Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% 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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