ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3425G>A (p.Arg1142His)

gnomAD frequency: 0.00006  dbSNP: rs538758039
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660401 SCV000782483 uncertain significance Epilepsy, childhood absence, susceptibility to, 6 2016-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001205379 SCV001376632 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485505 SCV002783066 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-03-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530569 SCV003700681 uncertain significance Inborn genetic diseases 2023-12-19 criteria provided, single submitter clinical testing The c.3425G>A (p.R1142H) alteration is located in exon 17 (coding exon 16) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 3425, causing the arginine (R) at amino acid position 1142 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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