ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.291-10_922del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048932 SCV001212962 likely pathogenic Peutz-Jeghers syndrome 2019-03-18 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing exons 2-7 and part of exon 8 of the STK11 gene. The 5' boundary is likely confined to intron 1, and the 3' end of this event occurs in exon 8 (c.922) of the STK11 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with STK11-related conditions. Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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