ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.256C>T (p.Arg86Ter)

dbSNP: rs1057520039
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632832 SCV000754028 pathogenic Peutz-Jeghers syndrome 2017-09-18 criteria provided, single submitter clinical testing 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 reported in individuals affected with Peutz–Jeghers syndrome (PMID: 9887330, 26979979). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg86*) in the STK11 gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV003459509 SCV004205605 pathogenic Melanoma, cutaneous malignant, susceptibility to, 1 2022-08-10 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000632832 SCV004933525 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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