ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.2531G>T (p.Arg844Leu)

dbSNP: rs1564365418
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Personalized Medicine, Children's Hospital Los Angeles RCV005055379 SCV000854477 likely pathogenic HP:0000256 (present); HP:0000729 (present); HP:0001263 (present); HP:0002373 (present); HP:0002474 (present) 2018-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001239704 SCV001412597 pathogenic Intellectual disability, autosomal dominant 8 2022-11-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg844 amino acid residue in GRIN1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 27159321). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: 598966). This missense change has been observed in individual(s) with clinical features of GRIN1-related conditions (PMID: 30755392). 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 leucine, which is neutral and non-polar, at codon 844 of the GRIN1 protein (p.Arg844Leu).

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