ClinVar Miner

Submissions for variant NM_178170.3(NEK8):c.269A>G (p.Glu90Gly)

gnomAD frequency: 0.00004  dbSNP: rs779113821
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002002851 SCV002256452 uncertain significance Nephronophthisis 9 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 90 of the NEK8 protein (p.Glu90Gly). This variant is present in population databases (rs779113821, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with NEK8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1472264). 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 C15"). 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.
Fulgent Genetics, Fulgent Genetics RCV002484868 SCV002787647 uncertain significance Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 2021-10-26 criteria provided, single submitter clinical testing

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