ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6195_6196insT (p.Ser2066Ter)

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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 RCV003795348 SCV004579203 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-04-15 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser2066*) in the CACNA1H gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 288 amino acid(s) of the CACNA1H protein.

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