ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5132CCA[1] (p.Thr1712del)

dbSNP: rs1596470148
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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 RCV000822346 SCV000963146 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2020-02-24 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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 variant, c.5135_5137delCCA, results in the deletion of 1 amino acid(s) of the CACNA1H protein (p.Thr1712del), but otherwise preserves the integrity of the reading frame.

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