ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.597+2T>A

dbSNP: rs2145424716
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001864977 SCV002126494 pathogenic Peutz-Jeghers syndrome 2021-07-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in exon 4 skipping, which introduces a premature termination codon (PMID: 22775437). The resulting mRNA is expected to undergo nonsense-mediated decay. Disruption of this splice site has been observed in individuals with Peutz-Jeghers syndrome (PMID: 16707622, 21118512, 22775437). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 4 of the STK11 gene. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.

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