ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4186C>G (p.Gln1396Glu)

gnomAD frequency: 0.00005  dbSNP: rs1459653241
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001959843 SCV002211682 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 1396 of the CEP290 protein (p.Gln1396Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. 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 disruptive. 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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