Submissions for variant NM_007327.4(GRIN1):c.855G>A (p.Val285=)

gnomAD frequency: 0.23587  dbSNP: rs1126442

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000117172	SCV000519415	benign	not specified	2016-01-07	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV002312122	SCV000846103	benign	Inborn genetic diseases	2015-12-31	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001519888	SCV001728848	benign	Intellectual disability, autosomal dominant 8	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001519888	SCV001933966	benign	Intellectual disability, autosomal dominant 8	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701601	SCV001933967	benign	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	2021-08-10	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000117172	SCV005087642	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 48% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 45. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV004717964	SCV005318050	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000117172	SCV000151336	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.