Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001231770 | SCV001404302 | uncertain significance | Intellectual disability, autosomal dominant 8 | 2022-09-01 | 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 GRIN1 protein function. ClinVar contains an entry for this variant (Variation ID: 958578). This variant has not been reported in the literature in individuals affected with GRIN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 935 of the GRIN1 protein (p.His935Gln). |
| Ambry Genetics | RCV002436906 | SCV002749713 | uncertain significance | Inborn genetic diseases | 2020-03-25 | criteria provided, single submitter | clinical testing | The p.H935Q variant (also known as c.2805T>A), located in coding exon 20 of the GRIN1 gene, results from a T to A substitution at nucleotide position 2805. The histidine at codon 935 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |