ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.464+1dup

dbSNP: rs2145422531
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389318 SCV001590640 pathogenic Peutz-Jeghers syndrome 2020-06-01 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with Peutz-Jeghers syndrome (PMID: 10408777, 10362809). It has also been observed to segregate with disease in related individuals. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr156Valfs*7) in the STK11 gene. It is expected to result in an absent or disrupted protein product.

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