Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| New York Genome Center | RCV001839173 | SCV002099111 | uncertain significance | Developmental and epileptic encephalopathy, 46 | 2021-04-09 | criteria provided, single submitter | clinical testing | The c.3253G>A, p.Ala1085Thr, missense variant in the GRIN2D gene identified has not been reported in the literature. This variant has three heterozygotes in the gnomAD v3 database, indicating this is a rare allele. In silico tools predict conflicting evidence of pathogenicity. Based on the available evidence, the variant c.3253G>A, p.Ala1085Thr, in the GRIN2D gene is classified as a Variant of Uncertain Significance. |
| Labcorp Genetics |
RCV002034707 | SCV002270529 | uncertain significance | not provided | 2023-01-07 | 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 GRIN2D protein function. ClinVar contains an entry for this variant (Variation ID: 1342422). This variant has not been reported in the literature in individuals affected with GRIN2D-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1085 of the GRIN2D protein (p.Ala1085Thr). |