Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001888459 | SCV002147122 | uncertain significance | Peutz-Jeghers syndrome | 2021-08-24 | 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 expected to disrupt STK11 protein function. This variant has not been reported in the literature in individuals affected with STK11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamine at codon 84 of the STK11 protein (p.Lys84Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. |
| Ambry Genetics | RCV004041095 | SCV005035451 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-02-06 | criteria provided, single submitter | clinical testing | The p.K84Q variant (also known as c.250A>C), located in coding exon 1 of the STK11 gene, results from an A to C substitution at nucleotide position 250. The lysine at codon 84 is replaced by glutamine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |