Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000631212 | SCV000752226 | uncertain significance | Cowden syndrome | 2022-05-15 | criteria provided, single submitter | clinical testing | 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 PIK3CA protein function. 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. Experimental studies have shown that this missense change does not substantially affect PIK3CA function (PMID: 18074223). ClinVar contains an entry for this variant (Variation ID: 526635). This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. This variant is present in population databases (rs71310379, gnomAD 0.008%). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 60 of the PIK3CA protein (p.Gln60Lys). |
Ce |
RCV000998159 | SCV001154092 | uncertain significance | not provided | 2018-03-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000998159 | SCV001753781 | likely benign | not provided | 2019-11-19 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 18074223) |