ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2220A>G (p.Arg740=)

dbSNP: rs1722589766
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047163 SCV001211100 uncertain significance Gastrointestinal stromal tumor 2019-03-30 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with KIT-related conditions. This sequence change affects codon 740 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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