Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000632823 | SCV000754019 | uncertain significance | Peutz-Jeghers syndrome | 2023-05-02 | criteria provided, single submitter | clinical testing | 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 alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 206 of the STK11 protein (p.Ala206Gly). ClinVar contains an entry for this variant (Variation ID: 527826). 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. |
| Color Diagnostics, |
RCV000775311 | SCV000909570 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-03-06 | criteria provided, single submitter | clinical testing | |
| Genome- |
RCV000632823 | SCV002057816 | uncertain significance | Peutz-Jeghers syndrome | 2021-07-15 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000775311 | SCV002654561 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-06-18 | criteria provided, single submitter | clinical testing | The p.A206G variant (also known as c.617C>G), located in coding exon 5 of the STK11 gene, results from a C to G substitution at nucleotide position 617. The alanine at codon 206 is replaced by glycine, an amino acid with similar properties. This alteration was not observed in 7,051 unselected female breast cancer patients and was observed with an allele frequency of 0.00018 in 11,241 female controls of Japanese ancestry. In addition, it was not observed in 53 unselected male breast cancer patients and was observed with an allele frequency of 0.0001 in 12,490 male controls of Japanese ancestry (Momozawa Y et al. Nat Commun, 2018 10;9:4083). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |