ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1595G>T (p.Gly532Val)

dbSNP: rs1085307961
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489886 SCV000577738 likely pathogenic not provided 2015-06-06 criteria provided, single submitter clinical testing The G532V variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism 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 G532V 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 occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, a missense variant in a nearby residue (T531M) has been reported in the Human Gene Mutation Database in association with a GRIN2A-related disorder (Stenson et al., 2014). Therefore, this variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.
Institute of Human Genetics, University of Leipzig Medical Center RCV001782975 SCV002026439 likely pathogenic Landau-Kleffner syndrome 2019-01-01 criteria provided, single submitter research

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