ClinVar Miner

Submissions for variant NC_000016.9:g.(?_765584)_(1204036_?)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 RCV001352399 SCV001546946 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2017-11-16 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-2 of the CACNA1H gene, which includes the initiator codon. This is expected to result in an absent or disrupted protein product. Similar deletions of exons 1-2 have not been reported in the literature in individuals with CACNA1H-related disease. 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CACNA1H cause disease.

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