ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.180C>G (p.Tyr60Ter) (rs778376925)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492522 SCV000580889 pathogenic Hereditary cancer-predisposing syndrome 2014-07-03 criteria provided, single submitter clinical testing
Invitae RCV000540715 SCV000629097 pathogenic Peutz-Jeghers syndrome 2017-04-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 60 (p.Tyr60*) of the STK11 gene. It is expected to result in an absent or disrupted protein product. This variant has been reported in multiple individuals affected with Peutz-Jeghers syndrome (PJS) (PMID: 9428765, 24604241, 11389158) and it has been shown to segregate with PJS in one family (PMID: 17637250). For these reasons, this variant has been classified as Pathogenic.

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