ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.954G>A (p.Met318Ile)

gnomAD frequency: 0.00001  dbSNP: rs769399180
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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 RCV000230762 SCV000283955 uncertain significance Gastrointestinal stromal tumor 2023-10-23 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 318 of the KIT protein (p.Met318Ile). This variant is present in population databases (rs769399180, 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: 237287). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002378967 SCV002695019 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-03 criteria provided, single submitter clinical testing The p.M318I variant (also known as c.954G>A), located in coding exon 6 of the KIT gene, results from a G to A substitution at nucleotide position 954. The methionine at codon 318 is replaced by isoleucine, 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.
Baylor Genetics RCV000230762 SCV004198099 uncertain significance Gastrointestinal stromal tumor 2023-09-20 criteria provided, single submitter clinical testing

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