ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.821delinsAC (p.Ile274fs)

dbSNP: rs1555738683
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632803 SCV000753998 pathogenic Peutz-Jeghers syndrome 2021-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile274Asnfs*11) 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 premature translational stop signal has been observed in individual(s) with clinical features of Peutz-Jeghers syndrome (PMID: 16733653). ClinVar contains an entry for this variant (Variation ID: 527811). For these reasons, this variant has been classified as Pathogenic.

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