ClinVar Miner

Submissions for variant NM_015267.4(CUX2):c.2482G>C (p.Asp828His)

dbSNP: rs1887467909
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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 RCV001823649 SCV002073250 uncertain significance Developmental and epileptic encephalopathy, 67 criteria provided, single submitter clinical testing The missense variant p.D828H in CUX2 (NM_015267.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.D828H variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.D828H missense variant is predicted to be damaging by both SIFT and PolyPhen2. The nucleotide c.2482 in CUX2 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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