ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.4016T>G (p.Met1339Arg)

dbSNP: rs2136403185
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002011098 SCV002292375 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2021-03-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with GRIN2B-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with arginine at codon 1339 of the GRIN2B protein (p.Met1339Arg). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and arginine.

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