ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1097_1108+1232del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632831 SCV000754027 pathogenic Peutz-Jeghers syndrome 2018-02-02 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing part of exon 8 of the STK11 gene, including the exon 8-intron 8 boundary (c.1094_1108+1230del). This likely creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). For these reasons, this variant has been classified as Pathogenic.

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