ClinVar Miner

Submissions for variant NC_000016.9:g.(?_1244952)_(1256309_?)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 RCV003109817 SCV003791819 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-08 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 3-12 of the CACNA1H 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. This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. 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.

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