ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.398_399TG[2] (p.Cys134fs) (rs587782424)

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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 RCV000161008 SCV000186465 pathogenic Hereditary cancer-predisposing syndrome 2013-08-26 criteria provided, single submitter clinical testing
GeneDx RCV000161008 SCV000211719 pathogenic Hereditary cancer-predisposing syndrome 2014-03-20 criteria provided, single submitter clinical testing The presence of the c.402_403delTG mutation was confirmed in the submitted specimen. The c.402_403delTG mutation in the STK11 gene causes a frameshift starting with codon Cysteine 134, changes this amino acid to a Tryptophan residue, and creates a premature Stop codon at position 28 of the new reading frame, denoted p.Cys134TrpfsX28. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense mediated mRNA decay. Although this mutation has not been previously reported to our knowledge. The variant is found in STK11 panel(s).
Invitae RCV000703819 SCV000832740 pathogenic Peutz-Jeghers syndrome 2018-03-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys134Trpfs*28) 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 an individual affected with Peutz-Jeghers syndrome (PMID: 20393878). ClinVar contains an entry for this variant (Variation ID: 182913). Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). For these reasons, this variant has been classified as Pathogenic.

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