Submissions for variant NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Diagnostic Laboratory, Strasbourg University Hospital	RCV001260647	SCV001437739	likely pathogenic	Intellectual disability	2020-09-10	criteria provided, single submitter	clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV001270427	SCV002604939	likely pathogenic	Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27	2022-11-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003416136	SCV004112928	likely pathogenic	GRIN2B-related condition	2022-11-30	criteria provided, single submitter	clinical testing	The GRIN2B c.1556G>A variant is predicted to result in the amino acid substitution p.Arg519Gln. This variant was reported in an individual with undefined neurodevelopmental disorder (Wang et al 2020. PubMed ID: 33004838). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating it is rare. This variant is interpreted as likely pathogenic.
Service de Génétique Moléculaire, Hôpital Robert Debré	RCV001270427	SCV001450716	pathogenic	Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27		no assertion criteria provided	clinical testing