ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1579A>C (p.Ile527Leu)

dbSNP: rs1722282395
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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 RCV001209245 SCV001380669 uncertain significance Gastrointestinal stromal tumor 2020-09-09 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with leucine at codon 527 of the KIT protein (p.Ile527Leu). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KIT-related conditions. 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: "Benign"; Align-GVGD: "Class C0"). 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.

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