Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000610442 | SCV000725261 | likely benign | not specified | 2017-12-07 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV001316189 | SCV001506794 | uncertain significance | Intellectual disability, autosomal dominant 8 | 2025-01-08 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 359 of the GRIN1 protein (p.Arg359His). This variant is present in population databases (rs141704101, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with GRIN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 513769). 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 GRIN1 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. |
Institute for Clinical Genetics, |
RCV003321694 | SCV004026044 | uncertain significance | not provided | 2021-05-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003321694 | SCV004699780 | uncertain significance | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | GRIN1: PM2, PP2 |