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)
Invitae RCV000807365 SCV000947413 pathogenic Peutz-Jeghers syndrome 2018-08-15 criteria provided, single submitter clinical testing 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). 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.
Genome-Nilou Lab RCV000807365 SCV002057384 pathogenic Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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