ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.145dup (p.Tyr49fs)

dbSNP: rs2145405146
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001389758 SCV001591211 pathogenic Peutz-Jeghers syndrome 2020-09-23 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). This variant has not been reported in the literature in individuals with STK11-related conditions. This sequence change creates a premature translational stop signal (p.Tyr49Leufs*114) in the STK11 gene. It is expected to result in an absent or disrupted protein product.

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