ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3473G>A (p.Arg1158Gln)

gnomAD frequency: 0.00005  dbSNP: rs143955920
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001072013 SCV001237355 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002555915 SCV003663465 uncertain significance Inborn genetic diseases 2022-11-21 criteria provided, single submitter clinical testing The c.3473G>A (p.R1158Q) 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 3473, causing the arginine (R) at amino acid position 1158 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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