ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser)

gnomAD frequency: 0.00011  dbSNP: rs201963596
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726884 SCV000241300 benign not provided 2018-06-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27818011, 22986046, 22833210)
Invitae RCV000471349 SCV000552120 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-12-22 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726884 SCV000703861 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314720 SCV000849221 likely benign Inborn genetic diseases 2024-01-12 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen RCV000726884 SCV001148650 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing
New York Genome Center RCV001781554 SCV002025703 likely benign Developmental and epileptic encephalopathy, 27 2022-01-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000726884 SCV004235206 uncertain significance not provided 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539739 SCV004760735 likely benign GRIN2B-related disorder 2022-02-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003993873 SCV004813703 likely benign not specified 2024-02-19 criteria provided, single submitter clinical testing Variant summary: GRIN2B c.3076G>A (p.Gly1026Ser) results in a non-conservative amino acid change located in the N-methyl D-aspartate receptor 2B3 C-terminus domain (IPR018884) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00023 in 251428 control chromosomes. c.3076G>A has been reported in the literature in at least one individual affected with autism spectrum disorder, without evidence for causation (e.g. Tarabeux_2011). 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: 22833210). ClinVar contains an entry for this variant (Variation ID: 205716). Based on the evidence outlined above, the variant was classified as likely benign.

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