ClinVar Miner

Submissions for variant NM_000836.4(GRIN2D):c.3422A>T (p.Tyr1141Phe)

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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 RCV003388709 SCV004100436 uncertain significance Developmental and epileptic encephalopathy, 46 criteria provided, single submitter clinical testing The missense variant p.Y1141F in GRIN2D (NM_000836.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Y1141F variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. IN silico tools are contradictory in their predictions and the residue is poorly conserved across species. For these reasons, this variant has been classified as Uncertain Significance.

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