ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2765A>G (p.Gln922Arg)

dbSNP: rs1560425417
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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 RCV000691826 SCV000819619 uncertain significance Gastrointestinal stromal tumor 2022-01-01 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 570857). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 922 of the KIT protein (p.Gln922Arg).
Ambry Genetics RCV003303130 SCV004009412 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-30 criteria provided, single submitter clinical testing The p.Q922R variant (also known as c.2765A>G), located in coding exon 20 of the KIT gene, results from an A to G substitution at nucleotide position 2765. The glutamine at codon 922 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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