ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1445C>A (p.Ala482Glu)

dbSNP: rs2109769025
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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 RCV001907952 SCV002147328 uncertain significance Gastrointestinal stromal tumor 2021-08-03 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 KIT-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with glutamic acid at codon 482 of the KIT protein (p.Ala482Glu). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and glutamic acid.
Ambry Genetics RCV002388738 SCV002699388 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-26 criteria provided, single submitter clinical testing The p.A482E variant (also known as c.1445C>A), located in coding exon 9 of the KIT gene, results from a C to A substitution at nucleotide position 1445. The alanine at codon 482 is replaced by glutamic acid, an amino acid with dissimilar 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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