Submissions for variant NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)

gnomAD frequency: 0.00067  dbSNP: rs145063086

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000514244	SCV000241262	likely benign	not provided	2020-12-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23933820, 25164438)
Genetic Services Laboratory, University of Chicago	RCV000187665	SCV000247527	uncertain significance	not specified	2015-07-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000514244	SCV000341357	uncertain significance	not provided	2018-01-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000309897	SCV000400141	benign	Landau-Kleffner syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Neurogenetics Laboratory - MEYER, AOU Meyer	RCV000417003	SCV000494553	uncertain significance	Focal epilepsy	2016-11-16	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514244	SCV000609881	likely benign	not provided	2017-09-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000309897	SCV000638247	likely benign	Landau-Kleffner syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311270	SCV000846955	likely benign	Inborn genetic diseases	2021-07-13	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mendelics	RCV000309897	SCV001139937	likely benign	Landau-Kleffner syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000514244	SCV001144085	benign	not provided	2019-04-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514244	SCV002822269	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	GRIN2A: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV003917709	SCV004732443	likely benign	GRIN2A-related disorder	2021-01-28	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).