ClinVar Miner

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

gnomAD frequency: 0.23587  dbSNP: rs1126442
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Total submissions: 6
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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.
Invitae 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
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.

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