ClinVar Miner

Submissions for variant NM_015267.4(CUX2):c.167T>C (p.Val56Ala)

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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 RCV003337950 SCV004048410 uncertain significance Developmental and epileptic encephalopathy, 67 criteria provided, single submitter clinical testing The missense c.167T>C(p.Val56Ala) variant in CUX2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Val56Ala variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Val at position 56 is changed to a Ala changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by PolyPhen2 and the residue is conserved across species. The amino acid change p.Val56Ala in CUX2 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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