Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002020029 | SCV002296697 | uncertain significance | Peutz-Jeghers syndrome | 2021-01-12 | 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 experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with glutamine at codon 319 of the STK11 protein (p.Pro319Gln). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and glutamine. |
| Ambry Genetics | RCV002386880 | SCV002695052 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-09-24 | criteria provided, single submitter | clinical testing | The p.P319Q variant (also known as c.956C>A), located in coding exon 8 of the STK11 gene, results from a C to A substitution at nucleotide position 956. The proline at codon 319 is replaced by glutamine, an amino acid with similar properties. This amino acid position is conserved. 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. |