ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.471_472del (p.Phe157fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003619011 SCV004539045 pathogenic Peutz-Jeghers syndrome 2023-03-31 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of Peutz-Jeghers syndrome (PMID: 29685139). This sequence change creates a premature translational stop signal (p.Phe157Leufs*5) in the STK11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113).

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