ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.367C>T (p.Gln123Ter)

dbSNP: rs1131690925
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492251 SCV000580905 pathogenic Hereditary cancer-predisposing syndrome 2012-11-30 criteria provided, single submitter clinical testing This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Invitae RCV001856951 SCV002208639 pathogenic Peutz-Jeghers syndrome 2021-04-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Peutz-Jeghers syndrome (PMID: 14623934, 17924967, 22543132). ClinVar contains an entry for this variant (Variation ID: 428761). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln123*) 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).
Myriad Genetics, Inc. RCV001856951 SCV004933155 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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