ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.1621A>G (p.Asn541Asp)

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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 RCV002510653 SCV002820153 uncertain significance Developmental and epileptic encephalopathy, 69 criteria provided, single submitter clinical testing The missense variant in c.1621A>G(p.Asn541Asp) in CACNA1E gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asn541Asp variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Asn at position 541 is changed to a Asp changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. The amino acid change p.Asn541Asp in CACNA1E 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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