ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.226G>A (p.Ala76Thr) (rs373913704)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723892 SCV000202425 uncertain significance not provided 2014-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000152983 SCV000714544 likely benign not specified 2017-10-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000197854 SCV000255128 uncertain significance Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-07-10 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 76 of the CEP290 protein (p.Ala76Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs373913704, ExAC 0.09%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals with CEP290-related disease. ClinVar contains an entry for this variant (Variation ID: 166841). 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: "Deleterious"; 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.

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