Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002871366 | SCV003230488 | pathogenic | Peutz-Jeghers syndrome | 2022-08-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with STK11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp53Glufs*110) 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). |
| Ambry Genetics | RCV005288830 | SCV005950356 | pathogenic | Hereditary cancer-predisposing syndrome | 2025-03-05 | criteria provided, single submitter | clinical testing | The c.158dupA pathogenic mutation, located in coding exon 1 of the STK11 gene, results from a duplication of A at nucleotide position 158, causing a translational frameshift with a predicted alternate stop codon (p.D53Efs*110). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This variant was reported in individual(s) with features consistent with Peutz-Jeghers syndrome (PJS) (Ambry internal data). 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. |