ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.180C>A (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 RCV000492762 SCV000580890 pathogenic Hereditary cancer-predisposing syndrome 2012-12-21 criteria provided, single submitter clinical testing
Invitae RCV000550769 SCV000629098 pathogenic Peutz-Jeghers syndrome 2017-07-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr60*) 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 several individuals affected with Peutz-Jeghers syndrome (PJS) (PMID: 10353780, 12865922, 21118512) and in a child with Sotos syndrome-like features (PMID: 22679258). This child's mother also carried this variant and was affected with PJS (PMID: 22679258, 24037887). ClinVar contains an entry for this variant (Variation ID: 428750). In addition, several different variants (c.180C>G, c.180delC, c.179dupA) giving rise to the same protein effect observed here (p.Tyr60*) have been reported in individuals affected with PJS (PMID: 17026623, 9428765, 16287113). 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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