ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3335G>A (p.Ser1112Asn)

gnomAD frequency: 0.00001  dbSNP: rs1182752473
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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 RCV001370505 SCV001567007 uncertain significance Nephronophthisis 15 2020-01-27 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with asparagine at codon 1112 of the CEP164 protein (p.Ser1112Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine.

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