ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.6547C>T (p.His2183Tyr) (rs535765861)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504346 SCV000594070 uncertain significance not specified 2015-10-05 criteria provided, single submitter clinical testing
Invitae RCV000199740 SCV000255129 uncertain significance Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2015-08-31 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 2183 of the CEP290 protein (p.His2183Tyr). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant has not been published in the literature and is not present in population databases. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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