ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.193A>G (p.Lys65Glu)

dbSNP: rs1407600939
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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 RCV000700293 SCV000829042 uncertain significance Gastrointestinal stromal tumor 2022-01-04 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. ClinVar contains an entry for this variant (Variation ID: 577512). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 65 of the KIT protein (p.Lys65Glu).
Ambry Genetics RCV002406619 SCV002720823 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-19 criteria provided, single submitter clinical testing The p.K65E variant (also known as c.193A>G), located in coding exon 2 of the KIT gene, results from an A to G substitution at nucleotide position 193. The lysine at codon 65 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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