ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.862+1G>T

dbSNP: rs1131690921
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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 RCV000492404 SCV000580900 pathogenic Hereditary cancer-predisposing syndrome 2013-01-09 criteria provided, single submitter clinical testing Other acmg-defined mutation (i.e. initiation codon or gross deletion)
Labcorp Genetics (formerly Invitae), Labcorp RCV000807365 SCV000947413 pathogenic Peutz-Jeghers syndrome 2018-08-15 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. For these reasons, this variant has been classified as Pathogenic. 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). 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). This variant is not present in population databases (ExAC no frequency).
Genome-Nilou Lab RCV000807365 SCV002057384 pathogenic Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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