ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1957T>C (p.Phe653Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV002510652 SCV002820152 uncertain significance Developmental and epileptic encephalopathy, 27 criteria provided, single submitter clinical testing The missense variant c.1957T>C (p.Phe653Leu) in GRIN2B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Phe653Leu variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Phe at position 653 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Phe653Leu in GRIN2B is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance

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