ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.735-10C>A

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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 RCV003064529 SCV003442692 pathogenic Peutz-Jeghers syndrome 2022-01-02 criteria provided, single submitter clinical testing This variant has been observed in individuals with clinical features of Peutz-Jeghers syndrome (PMID: 15188174, 23718779, 32573125; Invitae). This sequence change falls in intron 5 of the STK11 gene. It does not directly change the encoded amino acid sequence of the STK11 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant is also known as IVS5-10C>A. Studies have shown that this variant results in activation of a cryptic splice site and introduces a premature termination codon (PMID: 32573125). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.

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