ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.3826G>A (p.Gly1276Arg) (rs267603712)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000352755 SCV000341385 uncertain significance not provided 2016-05-20 criteria provided, single submitter clinical testing
Invitae RCV000535460 SCV000634650 uncertain significance Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-05-15 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1276 of the CEP290 protein (p.Gly1276Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs267603712, ExAC 0.01%) but has not been reported in the literature in individuals with a CEP290-related disease. ClinVar contains an entry for this variant (Variation ID: 79258). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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