ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3352G>T (p.Asp1118Tyr)

dbSNP: rs2136404881
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002245544 SCV002515863 uncertain significance Developmental and epileptic encephalopathy, 27 2022-05-20 criteria provided, single submitter clinical testing Comparison with the gnomAD browser has not provided any evidence that this sequence change is a norm variant that can also be detected in non-affected individuals. The mutation is not currently listed in ClinVar or the HGMD database; the mutation is independently classified as deleterious by two (PolyPhen-2, MutationTaster) prediction programs; the following ACMG criteria were applied for classification: PM2, PP2.

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