ClinVar Miner

Submissions for variant NC_000019.9:g.(?_13339493)_(13341043_?)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 RCV003105447 SCV003792250 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-05-16 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 36-37 of the CACNA1A gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This variant disrupts a region of the CACNA1A protein in which other variant(s) (p.Ile1810Leu ) have been determined to be pathogenic (PMID: 8898206, 9488686, 10024348, 12235360). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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