ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.354_362del (p.Tyr118_Glu121delinsTer)

dbSNP: rs2145420792
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386418 SCV001586613 pathogenic Peutz-Jeghers syndrome 2020-10-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). A different variant (c.354C>G) giving rise to the same protein effect observed here (p.Tyr118*) has been determined to be pathogenic (PMID: 15863673, 30092773). This suggests that this variant is also likely to be causative of disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr118*) in the STK11 gene. It is expected to result in an absent or disrupted protein product.

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