ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.863-1G>A

dbSNP: rs863224448
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196256 SCV000253696 likely pathogenic Peutz-Jeghers syndrome 2015-05-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Likely Pathogenic. Truncating variants in STK11 are known to be pathogenic. This particular truncation has been reported in the literature (PMID: 20616022). This sequence change affects an acceptor splice site in intron 6. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product.

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