Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre de Biologie Pathologie Génétique, |
RCV000681489 | SCV000808939 | likely benign | Intellectual disability | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001597201 | SCV001831854 | uncertain significance | not provided | 2019-04-10 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV002531421 | SCV003245858 | uncertain significance | Intellectual disability, autosomal dominant 8 | 2023-06-05 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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) has been performed at Invitae 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. ClinVar contains an entry for this variant (Variation ID: 562023). This variant has not been reported in the literature in individuals affected with GRIN1-related conditions. This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 123 of the GRIN1 protein (p.Thr123Asn). |