ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.998A>G (p.Asn333Ser)

gnomAD frequency: 0.00001  dbSNP: rs748965398
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002078783 SCV002423136 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-10-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987975 SCV004803689 uncertain significance not specified 2024-01-23 criteria provided, single submitter clinical testing Variant summary: GRIN2B c.998A>G (p.Asn333Ser) results in a conservative amino acid change located in the Receptor, ligand binding region (IPR001828) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 251224 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.998A>G has been reported in the literature in at least two individuals affected with autism spectrum disorder (e.g. Guo_2018). This report does not provide unequivocal conclusions about association of the variant with Mental Retardation, Autosomal Dominant 6. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 30564305). ClinVar contains an entry for this variant (Variation ID: 1614677). Based on the evidence outlined above, the variant was classified as uncertain significance.

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