ClinVar Miner

Submissions for variant NM_178170.3(NEK8):c.1179C>G (p.Ile393Met)

gnomAD frequency: 0.00006  dbSNP: rs775138270
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000277028 SCV000401540 uncertain significance Nephronophthisis 9 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Fulgent Genetics, Fulgent Genetics RCV002504094 SCV002815631 uncertain significance Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 2022-01-17 criteria provided, single submitter clinical testing
GeneDx RCV003441841 SCV004170099 uncertain significance not provided 2023-09-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004639217 SCV005139765 uncertain significance Inborn genetic diseases 2024-05-28 criteria provided, single submitter clinical testing The c.1179C>G (p.I393M) alteration is located in exon 8 (coding exon 8) of the NEK8 gene. This alteration results from a C to G substitution at nucleotide position 1179, causing the isoleucine (I) at amino acid position 393 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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