ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2248A>G (p.Arg750Gly)

gnomAD frequency: 0.00003  dbSNP: rs541362004
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633821 SCV000755094 uncertain significance Gastrointestinal stromal tumor 2023-08-14 criteria provided, single submitter clinical testing This variant is present in population databases (rs541362004, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with KIT-related conditions. ClinVar contains an entry for this variant (Variation ID: 528599). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 750 of the KIT protein (p.Arg750Gly).
Ambry Genetics RCV002431876 SCV002729332 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-27 criteria provided, single submitter clinical testing The p.R750G variant (also known as c.2248A>G), located in coding exon 16 of the KIT gene, results from an A to G substitution at nucleotide position 2248. The arginine at codon 750 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000633821 SCV005059871 uncertain significance Gastrointestinal stromal tumor 2023-11-03 criteria provided, single submitter clinical testing

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