ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.-1114_290+1del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699422 SCV000828132 pathogenic Peutz-Jeghers syndrome 2018-03-21 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing part of exon 1 of the STK11 gene, which includes the initiator codon (c.-2498_124del). This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with STK11-related disease. 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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