ClinVar Miner

Submissions for variant NM_178170.3(NEK8):c.976C>T (p.Arg326Trp)

gnomAD frequency: 0.00006  dbSNP: rs56286645
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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 RCV000796251 SCV000935756 uncertain significance Nephronophthisis 9 2022-10-24 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 642736). This variant has not been reported in the literature in individuals affected with NEK8-related conditions. This variant is present in population databases (rs56286645, gnomAD 0.009%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 326 of the NEK8 protein (p.Arg326Trp).
Fulgent Genetics, Fulgent Genetics RCV002477813 SCV002782637 uncertain significance Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 2022-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166136 SCV003907610 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.976C>T (p.R326W) alteration is located in exon 7 (coding exon 7) of the NEK8 gene. This alteration results from a C to T substitution at nucleotide position 976, causing the arginine (R) at amino acid position 326 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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