ClinVar Miner

Submissions for variant NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter)

gnomAD frequency: 0.00007  dbSNP: rs375661404
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001699113 SCV002038937 pathogenic not provided 2022-09-19 criteria provided, single submitter clinical testing Loss of NEK8 expression was reported in fibroblasts from affected fetuses with this homozygous variant (Frank et al., 2013); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 26697755, 30924587, 31980526, 31589614, 23418306, 26862157)
Fulgent Genetics, Fulgent Genetics RCV002483083 SCV002784663 pathogenic Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 2022-04-06 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000055629 SCV003920972 likely pathogenic Renal-hepatic-pancreatic dysplasia 2 2023-03-23 criteria provided, single submitter clinical testing This variant was observed in heterozygosity with variant c.618G>A
OMIM RCV000055629 SCV000083854 pathogenic Renal-hepatic-pancreatic dysplasia 2 2013-06-01 no assertion criteria provided literature only
Reproductive Development, Murdoch Childrens Research Institute RCV000766162 SCV000882496 uncertain significance Premature ovarian insufficiency 2018-01-10 no assertion criteria provided research
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699113 SCV001926445 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699113 SCV001955861 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699113 SCV001969330 pathogenic not provided no assertion criteria provided clinical testing

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