Submissions for variant NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met)

gnomAD frequency: 0.00105  dbSNP: rs145956175

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000726971	SCV000241232	benign	not provided	2019-08-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25904555, 22833210, 26283219, 27839871)
Athena Diagnostics	RCV000187635	SCV000613546	benign	not specified	2017-04-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084905	SCV000638223	likely benign	Landau-Kleffner syndrome	2024-01-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726971	SCV000704581	uncertain significance	not provided	2017-10-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314719	SCV000849384	benign	Inborn genetic diseases	2018-12-18	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
CeGaT Center for Human Genetics Tuebingen	RCV000726971	SCV004141103	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	GRIN2A: PS4:Supporting, BS1
PreventionGenetics, part of Exact Sciences	RCV003907658	SCV004726388	likely benign	GRIN2A-related disorder	2022-05-16	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).