ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2707A>G (p.Met903Val)

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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 RCV003639484 SCV004389247 uncertain significance Gastrointestinal stromal tumor 2022-11-23 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is present in population databases (rs779966930, gnomAD 0.006%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 903 of the KIT protein (p.Met903Val).
Ambry Genetics RCV004634307 SCV005132056 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-17 criteria provided, single submitter clinical testing The p.M903V variant (also known as c.2707A>G), located in coding exon 20 of the KIT gene, results from an A to G substitution at nucleotide position 2707. The methionine at codon 903 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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