ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.915_920+5delinsCATCCGGCAGATCCGGCAGATGCCGGCAGATCCGGCAGATCCGGCAGATC

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003618753 SCV004433386 pathogenic Peutz-Jeghers syndrome 2023-03-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with STK11-related conditions. This variant results in the deletion of part of exon 7 (c.915_920+5delins50) 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). This variant is not present in population databases (gnomAD no frequency). This variant disrupts a region of the STK11 protein in which other variant(s) (p.His306Tyr) have been determined to be pathogenic (PMID: 10874301, 24652667; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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