ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.650del (p.Pro217fs)

dbSNP: rs397518442
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042420 SCV001206099 pathogenic Peutz-Jeghers syndrome 2022-03-22 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro217Argfs*70) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 7453). This variant has not been reported in the literature in individuals affected with STK11-related conditions.
OMIM RCV000007879 SCV000028084 pathogenic Carcinoma of pancreas 1999-06-01 no assertion criteria provided literature only

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