ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3952_3953del (p.Asp1317_Ile1318insTer)

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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 RCV003050156 SCV003345883 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-07-27 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. This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile1318*) in the CACNA1H gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CACNA1H cause disease.

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