ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1715_1716del (p.Val572fs)

dbSNP: rs2141259958
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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 RCV001880302 SCV002121940 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2021-05-21 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 with CACNA1H-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Val572Alafs*83) 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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