ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.1757G>C (p.Gly586Ala)

gnomAD frequency: 0.00001  dbSNP: rs776845564
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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 RCV000688856 SCV000816482 uncertain significance not provided 2024-12-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 586 of the NEXMIF protein (p.Gly586Ala). This variant is present in population databases (rs776845564, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with NEXMIF-related conditions. ClinVar contains an entry for this variant (Variation ID: 568480). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The alanine 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.
Ambry Genetics RCV004026306 SCV000850973 uncertain significance not specified 2016-03-21 criteria provided, single submitter clinical testing The p.G586A variant (also known as c.1757G>C), located in coding exon 2 of the KIAA2022 gene, results from a G to C substitution at nucleotide position 1757. The glycine at codon 586 is replaced by alanine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples with coverage at this position. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of p.G586A remains unclear.
GeneDx RCV000688856 SCV001780913 likely benign not provided 2019-01-03 criteria provided, single submitter clinical testing

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