Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000220434 | SCV000276448 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-09-12 | criteria provided, single submitter | clinical testing | The c.1261_1262delAGinsCT variant (also known as p.S421L), located in coding exon 9 of the STK11 gene, results from an in-frame deletion of AG and insertion of CT at nucleotide positions 1261 to 1262. This results in the substitution of the serine residue for a leucine residue at codon 421, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV000463989 | SCV000541135 | uncertain significance | Peutz-Jeghers syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 421 of the STK11 protein (p.Ser421Leu). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with STK11-related conditions. ClinVar contains an entry for this variant (Variation ID: 403774). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
| Color Diagnostics, |
RCV000220434 | SCV001352918 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-25 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001653818 | SCV001871000 | uncertain significance | not provided | 2021-03-01 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this variant does not alter protein structure/function |
| Baylor Genetics | RCV004567932 | SCV005052881 | uncertain significance | Melanoma, cutaneous malignant, susceptibility to, 1 | 2024-01-24 | criteria provided, single submitter | clinical testing |