ClinVar Miner

Submissions for variant NC_000019.9:g.(?_13418576)_(13423615_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001949333 SCV002247034 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-06 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 12-15 of the CACNA1A gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in CACNA1A are known to be pathogenic (PMID: 10371528, 19486177, 25735478, 27250579). A similar copy number variant has been observed in individual(s) with CACNA1A-related conditions (PMID: 30167989). For these reasons, this variant has been classified as Pathogenic.

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