ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.679A>G (p.Ile227Val)

gnomAD frequency: 0.00001  dbSNP: rs201672517
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493024 SCV000582664 uncertain significance not provided 2017-05-12 criteria provided, single submitter clinical testing The I227V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I227V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Labcorp Genetics (formerly Invitae), Labcorp RCV001085323 SCV000777249 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-12-02 criteria provided, single submitter clinical testing

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