Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002305156 | SCV002590191 | uncertain significance | Peutz-Jeghers syndrome | 2022-09-26 | criteria provided, single submitter | clinical testing | 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) performed at Invitae indicates that this missense variant is not expected to disrupt STK11 protein function. This variant has not been reported in the literature in individuals affected with STK11-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 145 of the STK11 protein (p.Glu145Lys). |
| Ambry Genetics | RCV004673665 | SCV005165171 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-04 | criteria provided, single submitter | clinical testing | The p.E145K variant (also known as c.433G>A), located in coding exon 3 of the STK11 gene, results from a G to A substitution at nucleotide position 433. The glutamic acid at codon 145 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |