ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.508C>T (p.Gln170Ter)

dbSNP: rs121913323
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002512881 SCV003442650 pathogenic Peutz-Jeghers syndrome 2022-05-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln170*) 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). This premature translational stop signal has been observed in individual(s) with Peutz-Jeghers syndrome (PMID: 11668633). ClinVar contains an entry for this variant (Variation ID: 7455). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007881 SCV000028086 pathogenic Melanoma, cutaneous malignant, susceptibility to, 1 1999-03-04 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434489 SCV000505688 likely pathogenic Neoplasm 2015-07-14 no assertion criteria provided literature only

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