ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2198C>A (p.Ala733Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003314357 SCV004013636 likely pathogenic Developmental and epileptic encephalopathy, 27 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.64; 3Cnet: 1.00). A different missense change at the same codon (p.Ala733Pro) has been reported to be associated with GRIN2B related disorder (ClinVar ID: VCV001285468). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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