Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001911825 | SCV002120990 | uncertain significance | Peutz-Jeghers syndrome | 2020-11-13 | 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 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 aspartic acid with glycine at codon 284 of the STK11 protein (p.Asp284Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. |
| Ambry Genetics | RCV002406942 | SCV002675449 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-09 | criteria provided, single submitter | clinical testing | The p.D284G variant (also known as c.851A>G), located in coding exon 6 of the STK11 gene, results from an A to G substitution at nucleotide position 851. The aspartic acid at codon 284 is replaced by glycine, 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. |