ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3388C>T (p.Arg1130Trp)

dbSNP: rs1320154351
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330052 SCV001521643 likely pathogenic Developmental and epileptic encephalopathy, 27 2019-06-17 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Daryl Scott Lab, Baylor College of Medicine RCV001330052 SCV004102692 likely pathogenic Developmental and epileptic encephalopathy, 27 2023-11-10 criteria provided, single submitter clinical testing
GeneDx RCV004762093 SCV005370883 uncertain significance not provided 2023-07-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported as likely pathogenic in ClinVar but additional evidence is not available (ClinVar SCV#001521643.1); Has not been previously published as pathogenic or benign to our knowledge

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