ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.29dup (p.Met11fs)

dbSNP: rs2145404496
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001992664 SCV002223027 pathogenic Peutz-Jeghers syndrome 2021-09-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with STK11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met11Hisfs*152) 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).
Baylor Genetics RCV003464277 SCV004205606 likely pathogenic Melanoma, cutaneous malignant, susceptibility to, 1 2022-01-07 criteria provided, single submitter clinical testing

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