ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.767A>G (p.Gln256Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002400473 SCV002673147 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-08 criteria provided, single submitter clinical testing The p.Q256R variant (also known as c.767A>G), located in coding exon 5 of the KIT gene, results from an A to G substitution at nucleotide position 767. The glutamine at codon 256 is replaced by arginine, an amino acid with highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003103428 SCV003290503 uncertain significance Gastrointestinal stromal tumor 2022-04-08 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 256 of the KIT protein (p.Gln256Arg). This variant is not present in population databases (gnomAD no frequency). 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.

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