Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000632808 | SCV000754003 | pathogenic | Peutz-Jeghers syndrome | 2018-02-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr156*) in the STK11 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). This variant has been reported in several individuals affected with Peutz-Jeghers syndrome (PMID: 15863673, 23240097, Invitae). This variant is not present in population databases (ExAC no frequency). |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000632808 | SCV001363627 | pathogenic | Peutz-Jeghers syndrome | 2019-02-11 | criteria provided, single submitter | clinical testing | Variant summary: STK11 c.468C>G (p.Tyr156X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 220968 control chromosomes (gnomAD). c.468C>G has been reported in the literature in multiple individuals affected with Peutz-Jeghers Syndrome (Schumacher 2005, Korsse 2013). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Genome- |
RCV000632808 | SCV002057363 | pathogenic | Peutz-Jeghers syndrome | 2021-07-15 | criteria provided, single submitter | clinical testing |