ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1288_1289del (p.Gln431fs)

dbSNP: rs1596408210
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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 RCV000814288 SCV000954691 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2018-11-12 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CACNA1H cause disease. This variant has not been reported in the literature in individuals with CACNA1H-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln431Alafs*224) in the CACNA1H gene. It is expected to result in an absent or disrupted protein product.

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