ClinVar Miner

Submissions for variant NM_178170.3(NEK8):c.2077del (p.Ter693GluextTer?)

gnomAD frequency: 0.00001  dbSNP: rs746234904
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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 RCV001300836 SCV001489986 uncertain significance Nephronophthisis 9 2022-08-15 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the NEK8 mRNA. It is expected to extend the length of the NEK8 protein by 10 additional amino acid residues. This variant is present in population databases (rs746234904, gnomAD 0.01%). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1004174). This variant has not been reported in the literature in individuals affected with NEK8-related conditions.
Fulgent Genetics, Fulgent Genetics RCV002476394 SCV002791890 uncertain significance Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 2022-04-30 criteria provided, single submitter clinical testing

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