ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1430G>A (p.Arg477His)

gnomAD frequency: 0.00004  dbSNP: rs1325999341
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001366353 SCV001562654 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476672 SCV002789267 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-11-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987853 SCV004803899 likely benign not specified 2024-01-19 criteria provided, single submitter clinical testing Variant summary: CACNA1H c.1430G>A (p.Arg477His) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.4e-05 in 1552892 control chromosomes (i.e. 53 heterozygotes) in the gnomAD database, suggesting the variant is unlikely to be associated with an early onset, highly penetrant, autosomal dominant condition. To our knowledge, no occurrence of c.1430G>A in individuals affected with Idiopathic Generalized Epilepsy or other CACNA1H-associated disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1057384). Based on the evidence outlined above, the variant was classified as likely benign.

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