Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001233405 | SCV001405997 | uncertain significance | Peutz-Jeghers syndrome | 2021-09-29 | criteria provided, single submitter | clinical testing | Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with STK11-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change results in a frameshift in the STK11 gene (p.Lys431Serfs*164). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3 amino acids of the STK11 protein and extend the protein by an additional 160 amino acids. |
| All of Us Research Program, |
RCV001233405 | SCV004841083 | uncertain significance | Peutz-Jeghers syndrome | 2023-10-02 | criteria provided, single submitter | clinical testing | This variant deletes 27 nucleotide in exon 10 and part of 3' UTR of the STK11 gene, causing a frameshift in the last exon and deletion of the last 3 amino acids. This results in a protein product that is 160 amino acids longer than the normal protein product. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with STK11-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV004033201 | SCV005035483 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-10-11 | criteria provided, single submitter | clinical testing | The c.1292_*15del26 variant, located in coding exon 9 into the 3' untranslated region of the STK11 gene, results from a deletion of 26 nucleotides at position 1292 to 15 nucleotides beyond the coding sequence, causing a translational frameshift with a predicted alternate stop codon (p.K431Sfs*164). Frameshifts are typically deleterious in nature, however, this frameshift occurs at the 3' terminus of STK11, is not expected to trigger nonsense-mediated mRNA decay, and results in the elongation of the protein by 161 amino acids. The exact functional impact of these inserted amino acids is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |