ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.862+1G>T (rs1131690921)

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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 RCV000492404 SCV000580900 pathogenic Hereditary cancer-predisposing syndrome 2013-01-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other acmg-defined mutation (i.e. initiation codon or gross deletion)
Invitae RCV000807365 SCV000947413 pathogenic Peutz-Jeghers syndrome 2018-08-20 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the STK11 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individuals affected with Peutz Jeagher syndrome (PMID: 26607058). ClinVar contains an entry for this variant (Variation ID: 428756). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and 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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