Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001039730 | SCV001203274 | uncertain significance | PTEN hamartoma tumor syndrome | 2023-08-27 | 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 PTEN protein function. ClinVar contains an entry for this variant (Variation ID: 838223). This variant has not been reported in the literature in individuals affected with PTEN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 208 of the PTEN protein (p.Gly208Ser). |
Ambry Genetics | RCV002363566 | SCV002659812 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-03-11 | criteria provided, single submitter | clinical testing | The p.G208S variant (also known as c.622G>A), located in coding exon 6 of the PTEN gene, results from a G to A substitution at nucleotide position 622. The glycine at codon 208 is replaced by serine, 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. |
Baylor Genetics | RCV003461448 | SCV004206674 | uncertain significance | Glioma susceptibility 2 | 2023-08-29 | criteria provided, single submitter | clinical testing |