ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1693G>A (p.Gly565Arg)

dbSNP: rs1299476898
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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 RCV002004364 SCV002292482 uncertain significance Gastrointestinal stromal tumor 2021-10-23 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. 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 glycine with arginine at codon 565 of the KIT protein (p.Gly565Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.
Ambry Genetics RCV004046166 SCV005033124 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-04 criteria provided, single submitter clinical testing The p.G565R variant (also known as c.1693G>A), located in coding exon 11 of the KIT gene, results from a G to A substitution at nucleotide position 1693. The glycine at codon 565 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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