ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.368C>A (p.Thr123Asn)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000681489 SCV000808939 likely benign Intellectual disability 2017-01-01 criteria provided, single submitter clinical testing
GeneDx 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).

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