Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003066756 | SCV003446795 | uncertain significance | Peutz-Jeghers syndrome | 2023-06-11 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 2140093). 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 replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 121 of the STK11 protein (p.Glu121Lys). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on STK11 protein function. |
| Ambry Genetics | RCV003170995 | SCV003884622 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-01-08 | criteria provided, single submitter | clinical testing | The p.E121K variant (also known as c.361G>A), located in coding exon 2 of the STK11 gene, results from a G to A substitution at nucleotide position 361. The glutamic acid at codon 121 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |