ClinVar Miner

Submissions for variant NM_178170.3(NEK8):c.2072C>T (p.Pro691Leu)

gnomAD frequency: 0.00013  dbSNP: rs373048342
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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 RCV001308321 SCV001497766 uncertain significance Nephronophthisis 9 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 691 of the NEK8 protein (p.Pro691Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs373048342, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with NEK8-related conditions. 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: "Benign"; Align-GVGD: "Class C0"). 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 RCV002499588 SCV002777817 uncertain significance Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 2022-03-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002543231 SCV003529439 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.2072C>T (p.P691L) alteration is located in exon 15 (coding exon 15) of the NEK8 gene. This alteration results from a C to T substitution at nucleotide position 2072, causing the proline (P) at amino acid position 691 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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