ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.157G>T (p.Ala53Ser)

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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 RCV003340870 SCV004047662 uncertain significance Developmental and epileptic encephalopathy, 27 criteria provided, single submitter clinical testing The missense variant c.157G>T (p.Ala53Ser) in GRIN2B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ala53Ser variant is novel (not in any individuals) in gnomAD exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid Ala at position 53 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ala53Ser in GRIN2B is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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