ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.152G>A (p.Arg51Gln)

gnomAD frequency: 0.00001  dbSNP: rs752300360
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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 RCV002647188 SCV003512767 uncertain significance Nephronophthisis 15 2022-06-04 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with CEP164-related conditions. This variant is present in population databases (rs752300360, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 51 of the CEP164 protein (p.Arg51Gln).

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