ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.290+1G>C

dbSNP: rs1131690950
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001864373 SCV002135471 pathogenic Peutz-Jeghers syndrome 2020-12-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Disruption of this splice site has been observed in individual(s) with Peutz-Jeghers syndrome (PMID: 16707622, 11389158, 16287113, 19727776, Invitae). This variant is also known as IVS1+1G>C in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 1 of the STK11 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113).
Myriad Genetics, Inc. RCV001864373 SCV004933750 likely pathogenic Peutz-Jeghers syndrome 2024-02-09 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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