ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1474A>G (p.Lys492Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003825085 SCV004620281 uncertain significance Gastrointestinal stromal tumor 2023-03-09 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 492 of the KIT protein (p.Lys492Glu).
Ambry Genetics RCV004366758 SCV005033441 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-06 criteria provided, single submitter clinical testing The p.K492E variant (also known as c.1474A>G), located in coding exon 9 of the KIT gene, results from an A to G substitution at nucleotide position 1474. The lysine at codon 492 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. 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 this alteration remains unclear.

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