ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.658C>T (p.Gln220Ter) (rs1131690940)

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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 RCV000492208 SCV000580928 pathogenic Hereditary cancer-predisposing syndrome 2015-03-03 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 RCV000557192 SCV000629136 pathogenic Peutz-Jeghers syndrome 2018-06-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln220*) 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 individuals affected with Peutz-Jeghers syndrome (PMID: 9850045, 9887330, 23515270, 26979979) and an individual with lung adenocarcinomas (PMID: 20559149). This variant is also known as c.2681C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 428776). Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). For these reasons, this variant has been classified as Pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000557192 SCV000696725 pathogenic Peutz-Jeghers syndrome 2016-07-25 criteria provided, single submitter clinical testing Variant summary: The c.658C>T (p.Q220*) variant in STK11 gene is a nonsense mutation. The mutation is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. The variant has been reported in multiple affected individuals and was shown to segregate with the disease in at least one family (Yajima, 2013). The variant is absent from ExAC (~85428 chrs tested). Taken together, the variant was classified as Pathogenic.

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