Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003617602 | SCV004465134 | uncertain significance | Peutz-Jeghers syndrome | 2023-05-11 | 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 (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 160 of the STK11 protein (p.Leu160Val). |
| Ambry Genetics | RCV005281452 | SCV005950359 | uncertain significance | Hereditary cancer-predisposing syndrome | 2025-02-28 | criteria provided, single submitter | clinical testing | The p.L160V variant (also known as c.478C>G), located in coding exon 4 of the STK11 gene, results from a C to G substitution at nucleotide position 478. The leucine at codon 160 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |