ClinVar Miner

Submissions for variant NM_178170.3(NEK8):c.1100G>C (p.Ser367Thr)

gnomAD frequency: 0.00006  dbSNP: rs374175041
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001126429 SCV001285625 uncertain significance Nephronophthisis 9 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV002493384 SCV002789162 uncertain significance Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 2021-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001126429 SCV003784739 uncertain significance Nephronophthisis 9 2022-02-14 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 367 of the NEK8 protein (p.Ser367Thr). This variant is present in population databases (rs374175041, gnomAD 0.008%). 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: 619062). 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 threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Reproductive Development, Murdoch Childrens Research Institute RCV000766163 SCV000882497 uncertain significance Premature ovarian insufficiency 2018-01-10 no assertion criteria provided research

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