ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1237G>C (p.Glu413Gln)

dbSNP: rs1555112356
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052157 SCV002318658 uncertain significance Developmental and epileptic encephalopathy, 27 2022-03-22 criteria provided, single submitter clinical testing It is not observed in the gnomAD v2.1.1 dataset. A different missense change at the same codon has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000143189, PMID:24863970). A missense variant is a common mechanism. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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