ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.314T>G (p.Leu105Ter)

dbSNP: rs2080758521
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209963 SCV001381422 pathogenic Peutz-Jeghers syndrome 2019-09-19 criteria provided, single submitter clinical testing 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 variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu105*) in the STK11 gene. It is expected to result in an absent or disrupted protein product.

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