ClinVar Miner

Submissions for variant NC_000019.9:g.(?_13372244)_(13373667_?)dup

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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 RCV003105450 SCV003792252 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-11-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This variant results in a copy number gain of the genomic region encompassing exon(s) 25-26 of the CACNA1A gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be in-frame, and likely preserves the integrity of the reading frame.

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