ClinVar Miner

Submissions for variant NC_000019.9:g.(13470614_13476130)_(13566027_13616745)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700130 SCV005204142 likely pathogenic Developmental and epileptic encephalopathy, 42 2024-06-21 criteria provided, single submitter clinical testing Variant summary: The variant involves the duplication of exons 2-5 in the CACNA1A gene. It is assumed to be a tandem duplication in direct orientation (PMIDs: 25640679, 30054569). This Copy Number Variant (CNV) is expected to alter the reading frame and predicted to result in a truncation or absence of the encoded protein due to nonsense mediated decay (NMD). A presumed nomenclature of c.(293+1_294-1)_(784+1_785-1)dup has been designated for the purposes of this classification. The variant was absent in 21694 control chromosomes. To our knowledge, no occurrence of c.(293+1_294-1)_(784+1_785-1)dup in individuals affected with Epileptic Encephalopathy, Early Infantile, 42 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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