ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1076G>A (p.Arg359His)

gnomAD frequency: 0.00004  dbSNP: rs141704101
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610442 SCV000725261 likely benign not specified 2017-12-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001316189 SCV001506794 uncertain significance Intellectual disability, autosomal dominant 8 2025-01-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 359 of the GRIN1 protein (p.Arg359His). This variant is present in population databases (rs141704101, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with GRIN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 513769). Invitae Evidence 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 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. 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003321694 SCV004026044 uncertain significance not provided 2021-05-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003321694 SCV004699780 uncertain significance not provided 2024-01-01 criteria provided, single submitter clinical testing GRIN1: PM2, PP2

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