ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1628G>A (p.Gly543Glu)

dbSNP: rs2136479365
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001958738 SCV002238370 pathogenic Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2021-04-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 GRIN2B protein function. This variant has been observed in individual(s) with clinical features of GRIN2B-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 543 of the GRIN2B protein (p.Gly543Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid.

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