ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.334C>T (p.Gln112Ter)

dbSNP: rs771049807
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001389317 SCV001590639 pathogenic Peutz-Jeghers syndrome 2024-01-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln112*) 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 clinical features of Peutz-Jeghers syndrome (PMID: 17404884, 26979979, 30334930). ClinVar contains an entry for this variant (Variation ID: 1075653). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV001389317 SCV004933169 pathogenic Peutz-Jeghers syndrome 2024-02-12 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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