ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2639G>A (p.Arg880His)

dbSNP: rs904771425
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001263319 SCV001441360 uncertain significance Seizure; Intellectual disability 2020-01-31 criteria provided, single submitter clinical testing The c.2639G>A, p.Arg880His missense variant in the GRIN2B gene has not been reported in the available literature. The variant is absentin the gnomAD database, indicating this is a rare allele. In silico tools predict conflicting evidence of pathogenicity. Based on the available evidence,the c.2639G>A, p.Arg880His variant in the GRIN2B gene is classified as a variant of uncertain significance.
Invitae RCV001369317 SCV001565752 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2022-03-19 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 880 of the GRIN2B protein (p.Arg880His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GRIN2B-related conditions. ClinVar contains an entry for this variant (Variation ID: 983359). 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 not expected to disrupt GRIN2B 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.
GeneDx RCV003328667 SCV004035287 uncertain significance not provided 2023-03-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD)

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