ClinVar Miner

Submissions for variant NM_178170.3(NEK8):c.1736C>T (p.Ser579Leu)

gnomAD frequency: 0.00004  dbSNP: rs149987249
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002000323 SCV002263422 uncertain significance Nephronophthisis 9 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 579 of the NEK8 protein (p.Ser579Leu). This variant is present in population databases (rs149987249, gnomAD 0.02%). 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: 1480575). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The leucine 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.
Fulgent Genetics, Fulgent Genetics RCV002507743 SCV002814215 uncertain significance Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 2022-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002573536 SCV003752195 uncertain significance Inborn genetic diseases 2022-10-06 criteria provided, single submitter clinical testing The c.1736C>T (p.S579L) alteration is located in exon 13 (coding exon 13) of the NEK8 gene. This alteration results from a C to T substitution at nucleotide position 1736, causing the serine (S) at amino acid position 579 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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