ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.598-2A>C

dbSNP: rs1131690934
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041182 SCV001204784 pathogenic Peutz-Jeghers syndrome 2019-02-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants 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). 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. Disruptions of this splice site (c.598-2A>T, also known as IVS4-2A>T, and c.598-1G>A) have been observed in several individuals affected with Peutz-Jeghers syndrome (PMID: 11389158, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 4 of the STK11 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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