ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.76C>G (p.Gln26Glu)

gnomAD frequency: 0.00002  dbSNP: rs759129060
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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 RCV001036232 SCV001199584 uncertain significance Gastrointestinal stromal tumor 2023-08-20 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 26 of the KIT protein (p.Gln26Glu). This variant is present in population databases (rs759129060, gnomAD 0.01%). 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: 835367). 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.
GeneDx RCV002298851 SCV002588452 uncertain significance not provided 2022-04-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV001036232 SCV005059820 uncertain significance Gastrointestinal stromal tumor 2024-02-21 criteria provided, single submitter clinical testing

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