ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2269A>G (p.Met757Val)

dbSNP: rs1722622985
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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 RCV001914421 SCV002191532 uncertain significance Gastrointestinal stromal tumor 2022-12-15 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1420633). This missense change has been observed in individual(s) with bone marrow failure (PMID: 29146883). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 757 of the KIT protein (p.Met757Val).

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