ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1765C>T (p.Leu589=)

dbSNP: rs2109777481
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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 RCV002029183 SCV002299075 uncertain significance Gastrointestinal stromal tumor 2022-12-20 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1514231). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 589 of the KIT mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the KIT protein.

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