ClinVar Miner

Submissions for variant NC_000019.9:g.(?_13445172)_(13446743_?)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 RCV001952221 SCV002190007 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-08-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 7-8 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).

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