Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001976266 | SCV002264704 | uncertain significance | not provided | 2024-02-10 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1117 of the GRIN2D protein (p.Asp1117Asn). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with GRIN2D-related conditions. ClinVar contains an entry for this variant (Variation ID: 1475470). 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 with a negative predictive value of 95%. 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. |
| Ambry Genetics | RCV004042291 | SCV004881016 | uncertain significance | Inborn genetic diseases | 2023-12-19 | criteria provided, single submitter | clinical testing | The c.3349G>A (p.D1117N) alteration is located in exon 13 (coding exon 12) of the GRIN2D gene. This alteration results from a G to A substitution at nucleotide position 3349, causing the aspartic acid (D) at amino acid position 1117 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |