ClinVar Miner

Submissions for variant NM_178170.3(NEK8):c.1078C>T (p.Pro360Ser)

gnomAD frequency: 0.00006  dbSNP: rs368688884
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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 RCV001925418 SCV002174141 uncertain significance Nephronophthisis 9 2021-11-27 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with NEK8-related conditions. This variant is present in population databases (rs368688884, gnomAD 0.03%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 360 of the NEK8 protein (p.Pro360Ser).
Fulgent Genetics, Fulgent Genetics RCV002478329 SCV002783020 uncertain significance Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 2021-11-02 criteria provided, single submitter clinical testing

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