Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV000760225 | SCV000890055 | uncertain significance | Landau-Kleffner syndrome | 2017-02-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000760225 | SCV001541295 | uncertain significance | Landau-Kleffner syndrome | 2020-09-07 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GRIN2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 620019). This sequence change replaces histidine with leucine at codon 839 of the GRIN2A protein (p.His839Leu). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and leucine. 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 expected to disrupt GRIN2A 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. |