ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2699G>A (p.Arg900His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337760 SCV004048021 uncertain significance Developmental and epileptic encephalopathy, 27 criteria provided, single submitter clinical testing The missense variant c.2699G>A (p.Arg900His) in GRIN2B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.0003%) in the gnomAD and novel in 1000 genome database. The amino acid Arg at position 900 is changed to a His changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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