ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.2278G>A (p.Glu760Lys)

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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 RCV003340847 SCV004047621 uncertain significance Developmental and epileptic encephalopathy, 69 criteria provided, single submitter clinical testing The missense variant inc.2278G>A(p.Glu760Lys) in CACNA1E gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu760Lys variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Glu at position 760 is changed to a Lys changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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