ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1626T>G (p.Ile542Met)

dbSNP: rs1722288511
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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 RCV001323589 SCV001514512 uncertain significance Gastrointestinal stromal tumor 2023-02-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 542 of the KIT protein (p.Ile542Met). This variant is not present in population databases (gnomAD no frequency). 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: 1023528). 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 disruptive. 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 RCV002402904 SCV002706879 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-19 criteria provided, single submitter clinical testing The p.I542M variant (also known as c.1626T>G), located in coding exon 10 of the KIT gene, results from a T to G substitution at nucleotide position 1626. The isoleucine at codon 542 is replaced by methionine, 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.

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