ClinVar Miner

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

dbSNP: rs1057520039
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000632832 SCV000754028 pathogenic Peutz-Jeghers syndrome 2017-09-18 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with Peutz–Jeghers syndrome (PMID: 9887330, 26979979). Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). For these reasons, this variant has been classified as Pathogenic.
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.
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000632832 SCV005685040 pathogenic Peutz-Jeghers syndrome 2025-01-10 criteria provided, single submitter clinical testing The following ACMG criteria was used: PVS1; PM2_SUP; PS4_SUP

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