Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001017286 | SCV001178344 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-03-26 | criteria provided, single submitter | clinical testing | The p.T367A variant (also known as c.1099A>G), located in coding exon 8 of the STK11 gene, results from an A to G substitution at nucleotide position 1099. The threonine at codon 367 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly 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. |
| Invitae | RCV001860859 | SCV002192255 | uncertain significance | Peutz-Jeghers syndrome | 2021-01-31 | 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 not expected to disrupt STK11 protein function. This variant has not been reported in the literature in individuals with STK11-related conditions. ClinVar contains an entry for this variant (Variation ID: 822164). This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with alanine at codon 367 of the STK11 protein (p.Thr367Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. |