Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV002260550 | SCV002540228 | uncertain significance | Complex neurodevelopmental disorder | 2022-02-07 | criteria provided, single submitter | clinical testing | The GRIN2A c.1012A>G (p.Met338Val) missense variant results in the substitution of methionine at amino acid 338 with valine. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.1012A>G (p.Met338Val) variant is classified as a variant of uncertain significance for GRIN2A-complex neurodevelopmental disorder. |
| Labcorp Genetics |
RCV003101439 | SCV002948413 | uncertain significance | Landau-Kleffner syndrome | 2024-10-23 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 338 of the GRIN2A protein (p.Met338Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GRIN2A-related conditions. This missense change has been observed in at least one individual who was not affected with GRIN2A-related conditions (internal data). ClinVar contains an entry for this variant (Variation ID: 1693282). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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. |
| Gene |
RCV004591857 | SCV005080339 | uncertain significance | not provided | 2023-12-12 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |