Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000549704 | SCV000629052 | pathogenic | Peutz-Jeghers syndrome | 2017-05-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This deletion removes the majority of the protein kinase domain of the STK11 protein.  Loss of STK11 kinase activity has been reported to cause the PJS phenotype (PMID: 9837816, 15987703) This variant has not been reported in the literature in individuals with a STK11-related disease.  However similar deletions encompassing exons 3-10 (PMID: 24652667, 26386697) have been reported in individuals affected with Peutz Jeghers syndrome (PJS). This variant is a gross deletion of the genomic region encompassing exons 3-9 of the STK11 gene. The 5' boundary is likely confined to intron 2. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. Exon 10 of STK11 is non-coding and is not included in the assayed region. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product by eliminating ~300 amino acid residues (~70%) from the full length protein or disrupt mRNA translation. |