Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000553716 | SCV000629107 | uncertain significance | Peutz-Jeghers syndrome | 2023-08-16 | 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) 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. ClinVar contains an entry for this variant (Variation ID: 458039). This variant has not been reported in the literature in individuals affected with STK11-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 117 of the STK11 protein (p.Leu117Ser). |
| Ambry Genetics | RCV003159758 | SCV003858826 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-01-03 | criteria provided, single submitter | clinical testing | The p.L117S variant (also known as c.350T>C), located in coding exon 2 of the STK11 gene, results from a T to C substitution at nucleotide position 350. The leucine at codon 117 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV004568746 | SCV005052869 | uncertain significance | Melanoma, cutaneous malignant, susceptibility to, 1 | 2024-03-19 | criteria provided, single submitter | clinical testing |