Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000492134 | SCV000580916 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-11-24 | criteria provided, single submitter | clinical testing | The c.418delC pathogenic mutation, located in coding exon 3 of the STK11 gene, results from a deletion of one nucleotide at position 418, causing a translational frameshift with a predicted alternate stop codon. This mutation has been reported in several families diagnosed with Peutz-Jeghers Syndrome (Nakagawa et al. Hum Genet. 1998 Aug;103(2):168-72; Lim et al. Gastroenterology. 2004 Jun;126(7):1788-94; Amos et al. J Med Genet. 2004 May;41(5):327-33; de Leng et al. Clin Genet. 2007 Dec;72(6):568-73; Mehenni H et al. Dig Dis Sci, 2007 Aug;52:1924-33). 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. |
| Invitae | RCV000007875 | SCV002177625 | pathogenic | Peutz-Jeghers syndrome | 2022-02-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu140Trpfs*21) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 7449). This variant is also known as 1407delC. This premature translational stop signal has been observed in individual(s) with Peutz-Jeghers syndrome (PMID: 9850045, 15121768, 16407375). It has also been observed to segregate with disease in related individuals. |
| OMIM | RCV000007875 | SCV000028080 | pathogenic | Peutz-Jeghers syndrome | 1998-12-01 | no assertion criteria provided | literature only |