ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1099_1108+73del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002899058 SCV003238530 uncertain significance Peutz-Jeghers syndrome 2022-09-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in activation of a cryptic splice site and introduces a new termination codon (Invitae). However the mRNA is not expected to undergo nonsense-mediated decay. This variant has not been reported in the literature in individuals affected with STK11-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant results in the deletion of part of exon 8 (c.1099_1108+73del) of the STK11 gene. RNA analysis indicates that this variant induces altered splicing and likely disrupts the C-terminus of the protein.

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