ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.1955C>G (p.Ala652Gly) (rs879253912)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235490 SCV000292775 likely pathogenic not provided 2016-12-21 criteria provided, single submitter clinical testing An variant that is likely pathogenic has been identified in the GRIN2B gene. The A652G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A652G variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution alters a highly conserved position predicted to be within the pore domain of the GRIN2B protein. In silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, targeted parental test results indicate the A652G variant is apparently de novo in this individual. Therefore, we now interpret A652G as a likely pathogenic variant; however, the possibility that it is benign cannot be excluded.

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