ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.487_490dup (p.Leu164fs)

dbSNP: rs2145424194
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001972514 SCV002240509 pathogenic Peutz-Jeghers syndrome 2021-09-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Peutz-Jeghers syndrome (PMID: 30334930). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu164Argfs*7) 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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