ClinVar Miner

Submissions for variant NM_178170.3(NEK8):c.1246G>A (p.Gly416Ser)

gnomAD frequency: 0.00014  dbSNP: rs199823733
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000805813 SCV000945784 uncertain significance Nephronophthisis 9 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 416 of the NEK8 protein (p.Gly416Ser). This variant is present in population databases (rs199823733, gnomAD 0.05%). This missense change has been observed in individual(s) with syndromic renal cystic dysplasia (PMID: 26967905). ClinVar contains an entry for this variant (Variation ID: 650630). 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. 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.
Illumina Laboratory Services, Illumina RCV000805813 SCV001287934 uncertain significance Nephronophthisis 9 2017-09-07 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV002477852 SCV002778357 uncertain significance Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 2022-04-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003456435 SCV004184662 uncertain significance not provided 2024-08-01 criteria provided, single submitter clinical testing NEK8: PM2, PP3

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