ClinVar Miner

Submissions for variant NM_178170.3(NEK8):c.857C>G (p.Thr286Arg)

gnomAD frequency: 0.00001  dbSNP: rs903553470
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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 RCV001946426 SCV002209201 uncertain significance Nephronophthisis 9 2021-10-20 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces threonine with arginine at codon 286 of the NEK8 protein (p.Thr286Arg). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and arginine.
Fulgent Genetics, Fulgent Genetics RCV002492020 SCV002790208 uncertain significance Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 2022-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002562098 SCV003742973 uncertain significance Inborn genetic diseases 2021-08-23 criteria provided, single submitter clinical testing The c.857C>G (p.T286R) alteration is located in exon 6 (coding exon 6) of the NEK8 gene. This alteration results from a C to G substitution at nucleotide position 857, causing the threonine (T) at amino acid position 286 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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