ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1739T>A (p.Phe580Tyr)

dbSNP: rs199801114
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001476182 SCV001680387 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2022-01-12 criteria provided, single submitter clinical testing
Neurogenetics Research Program, University of Adelaide RCV001796512 SCV001737571 likely pathogenic Cerebral palsy 2021-06-10 criteria provided, single submitter research Novel mutation in GRIN2B pore domain
GeneDx RCV001559832 SCV001782137 likely benign not provided 2019-08-20 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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