ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln)

dbSNP: rs781053477
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500334 SCV000595058 likely pathogenic Intellectual disability, autosomal dominant 8 2016-12-28 criteria provided, single submitter clinical testing
Invitae RCV000500334 SCV003459883 pathogenic Intellectual disability, autosomal dominant 8 2022-02-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects GRIN1 function (PMID: 29365063). 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. ClinVar contains an entry for this variant (Variation ID: 435376). This missense change has been observed in individual(s) with clinical features of GRIN1-related conditions (PMID: 29365063). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 794 of the GRIN1 protein (p.Arg794Gln).
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000500334 SCV000599265 likely pathogenic Intellectual disability, autosomal dominant 8 2016-02-02 no assertion criteria provided clinical testing

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