ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.19C>T (p.Gln7Ter)

dbSNP: rs2080669968
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001890059 SCV002146015 pathogenic Peutz-Jeghers syndrome 2022-04-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln7*) 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.
Myriad Genetics, Inc. RCV001890059 SCV004930355 pathogenic Peutz-Jeghers syndrome 2024-02-09 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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