ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.717G>A (p.Trp239Ter)

dbSNP: rs137853082
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000399421 SCV000330287 pathogenic not provided 2016-07-24 criteria provided, single submitter clinical testing The W239X nonsense variant in the STK11 gene has been reported previously in association with Peutz-Jeghers syndrome (Fu et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on the currently available evidence, we consider W239X to be pathogenic.
Invitae RCV000796535 SCV000936053 pathogenic Peutz-Jeghers syndrome 2018-09-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp239*) in the STK11 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). This variant has been observed in a family affected with Peutz–Jeghers syndrome (PMID: 26225618). ClinVar contains an entry for this variant (Variation ID: 280378). This variant is not present in population databases (ExAC no frequency).
Genome-Nilou Lab RCV000796535 SCV002057375 pathogenic Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000796535 SCV004931515 pathogenic Peutz-Jeghers syndrome 2024-02-12 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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