ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1775-2A>G

dbSNP: rs1577995761
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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 RCV000792285 SCV000931571 likely pathogenic Gastrointestinal stromal tumor 2018-10-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 11 of the KIT gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in KIT are known to be pathogenic (PMID: 15194144). This variant has not been reported in the literature in individuals with KIT-related disease.

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