Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001854483 | SCV002256451 | uncertain significance | Intellectual disability, autosomal dominant 8 | 2020-12-30 | 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 expected to disrupt GRIN1 protein function. This variant has not been reported in the literature in individuals with GRIN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 98401). This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with methionine at codon 442 of the GRIN1 protein (p.Thr442Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. |
| Psychiatry Genetics Yale University | RCV000084692 | SCV000116828 | not provided | not provided | no assertion provided | not provided |