Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000632819 | SCV000754015 | pathogenic | Peutz-Jeghers syndrome | 2019-09-27 | criteria provided, single submitter | clinical testing | 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 individuals affected with Peutz-Jeghers syndrome (PJS) and to segregate with the disease in at least one family (PMID: 16287113, 9934767, 23718779). ClinVar contains an entry for this variant (Variation ID: 527822). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp53Glyfs*110) in the STK11 gene. It is expected to result in an absent or disrupted protein product. |
| Ambry Genetics | RCV002404753 | SCV002704152 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-08-16 | criteria provided, single submitter | clinical testing | The c.157dupG pathogenic mutation, located in coding exon 1 of the STK11 gene, results from a duplication of G at nucleotide position 157, causing a translational frameshift with a predicted alternate stop codon (p.D53Gfs*110). This alteration has been detected in multiple individuals with Peutz-Jeghers syndrome (PJS), and was shown to segregate with disease in at least one family (Trojan J et al. Am J Gastroenterol, 1999 Jan;94:257-61; Aretz S et al. Hum Mutat, 2005 Dec;26:513-9; Borun P et al. BMC Med Genet, 2013 May;14:58). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |