Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001270385 | SCV004604934 | uncertain significance | Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 | 2023-08-28 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with GRIN2B-related conditions. This variant is present in population databases (rs760488868, gnomAD 0.0009%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 299 of the GRIN2B protein (p.Ile299Val). ClinVar contains an entry for this variant (Variation ID: 988725). 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 GRIN2B 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. |
Service de Génétique Moléculaire, |
RCV001270385 | SCV001450665 | likely pathogenic | Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 | no assertion criteria provided | clinical testing |