ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2969G>A (p.Arg990Gln)

gnomAD frequency: 0.00001  dbSNP: rs1458162832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001304466 SCV001493746 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002437034 SCV002751573 uncertain significance Inborn genetic diseases 2021-08-27 criteria provided, single submitter clinical testing The c.2969G>A (p.R990Q) alteration is located in exon 13 (coding exon 12) of the GRIN2B gene. This alteration results from a G to A substitution at nucleotide position 2969, causing the arginine (R) at amino acid position 990 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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