ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.874G>A (p.Ala292Thr)

dbSNP: rs2109693537
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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 RCV001980448 SCV002271377 uncertain significance Gastrointestinal stromal tumor 2020-11-26 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with KIT-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 292 of the KIT protein (p.Ala292Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine.
Ambry Genetics RCV002370664 SCV002685085 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-06 criteria provided, single submitter clinical testing The p.A292T variant (also known as c.874G>A), located in coding exon 5 of the KIT gene, results from a G to A substitution at nucleotide position 874. The alanine at codon 292 is replaced by threonine, 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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