ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.748del (p.Thr250fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003507754 SCV004326125 pathogenic Peutz-Jeghers syndrome 2023-09-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr250Argfs*37) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with STK11-related conditions. For these reasons, this variant has been classified as Pathogenic.

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