ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.109C>T (p.Gln37Ter) (rs121913324)

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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 RCV000492327 SCV000580891 pathogenic Hereditary cancer-predisposing syndrome 2015-05-16 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 RCV000553835 SCV000629058 pathogenic Peutz-Jeghers syndrome 2017-02-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 37 (p.Gln37*) of 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. This particular variant has been reported in the literature in at least one individual with Peutz-Jeghers syndrome (PMID: 15188174). For these reasons, this variant has been classified as Pathogenic.
Database of Curated Mutations (DoCM) RCV000424203 SCV000505687 likely pathogenic Neoplasm 2015-07-14 no assertion criteria provided literature only

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