Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001016585 | SCV001177551 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-03-20 | criteria provided, single submitter | clinical testing | The p.A93T variant (also known as c.277G>A), located in coding exon 1 of the STK11 gene, results from a G to A substitution at nucleotide position 277. The alanine at codon 93 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV001063234 | SCV001228071 | uncertain significance | Peutz-Jeghers syndrome | 2021-08-26 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with threonine at codon 93 of the STK11 protein (p.Ala93Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with STK11-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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. |
| Genome- |
RCV001063234 | SCV002057758 | uncertain significance | Peutz-Jeghers syndrome | 2021-07-15 | criteria provided, single submitter | clinical testing |