ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.250A>T (p.Lys84Ter) (rs137853076)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132431 SCV000187525 pathogenic Hereditary cancer-predisposing syndrome 2017-01-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000007869 SCV000541165 pathogenic Peutz-Jeghers syndrome 2018-03-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys84*) 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 the literature in individuals affected with Peutz-Jeghers syndrome (PMID: 9428765, 9887330, 17404884, 15188174). ClinVar contains an entry for this variant (Variation ID: 7443). Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760079 SCV000889854 pathogenic not provided 2018-01-12 criteria provided, single submitter clinical testing
OMIM RCV000007869 SCV000028074 pathogenic Peutz-Jeghers syndrome 1998-01-08 no assertion criteria provided literature only

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