ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3365G>C (p.Arg1122Pro)

dbSNP: rs144910893
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071033 SCV001236315 uncertain significance Nephronophthisis 15 2020-12-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CEP164-related conditions. 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. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is present in population databases (rs144910893, ExAC 0.02%). This sequence change replaces arginine with proline at codon 1122 of the CEP164 protein (p.Arg1122Pro). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and proline.

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