ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.738C>G (p.Tyr246Ter)

dbSNP: rs137853083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000007886 SCV002117611 pathogenic Peutz-Jeghers syndrome 2022-08-03 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Peutz-Jeghers syndrome (PMID: 15200509, 32462036). This sequence change creates a premature translational stop signal (p.Tyr246*) in the STK11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 7460). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007886 SCV000028091 pathogenic Peutz-Jeghers syndrome 2004-07-01 no assertion criteria provided literature only

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