ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3413G>T (p.Arg1138Leu)

dbSNP: rs187979330
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000215391 SCV000279698 uncertain significance not provided 2015-12-14 criteria provided, single submitter clinical testing The R1138L variant has not beenpublished as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observedin approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. The R1138L variant is a non-conservativeamino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity,charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silicoanalysis is inconsistent in its predictions as to whether or not the variant is damaging to the proteinstructure/function. Based on the currently available information, it is unclear whether this variant is a pathogenicvariant or a rare benign variant.
Invitae RCV001232895 SCV001405467 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-10-13 criteria provided, single submitter clinical testing

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