Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000492327 | SCV000580891 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-06-26 | criteria provided, single submitter | clinical testing | The p.Q37* pathogenic mutation (also known as c.109C>T), located in coding exon 1 of the STK11 gene, results from a C to T substitution at nucleotide position 109. This changes the amino acid from a glutamine to a stop codon within coding exon 1. This mutation has been reported in multiple individuals fulfilling criteria for a clinical diagnosis of Peutz-Jeghers syndrome (PJS) (Lim W et al. Gastroenterology. 2004 Jun;126(7):1788-94; Hearle N et al. Clin Cancer Res. 2006 May 15;12(10):3209-15; Jiang YL et al. Cancer Genet, 2019 01;230:47-57). In addition, in vivo functional studies demonstrate that this alteration confers tumorigenicity (Dahmani R et al. Oncogene, 2015 Apr;34:2337-46). 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 | RCV000553835 | SCV000629058 | pathogenic | Peutz-Jeghers syndrome | 2017-02-13 | 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. This particular variant has been reported in the literature in at least one individual with Peutz-Jeghers syndrome (PMID: 15188174). This sequence change creates a premature translational stop signal at codon 37 (p.Gln37*) of the STK11 gene. It is expected to result in an absent or disrupted protein product. |
| Genome- |
RCV000553835 | SCV002057348 | pathogenic | Peutz-Jeghers syndrome | 2021-07-15 | criteria provided, single submitter | clinical testing | |
| Myriad Genetics, |
RCV000553835 | SCV004931539 | pathogenic | Peutz-Jeghers syndrome | 2024-02-09 | 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. |
| Gene |
RCV004591147 | SCV005078352 | pathogenic | not provided | 2024-07-08 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 15188174, 16707622, 30528796, 24998845) |
| Database of Curated Mutations |
RCV000424203 | SCV000505687 | likely pathogenic | Neoplasm | 2015-07-14 | no assertion criteria provided | literature only |