ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.760A>G (p.Lys254Glu)

dbSNP: rs2109692895
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001981848 SCV002213483 uncertain significance Gastrointestinal stromal tumor 2022-10-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1431702). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 254 of the KIT protein (p.Lys254Glu).

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