ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3650G>A (p.Arg1217His)

gnomAD frequency: 0.00011  dbSNP: rs374847612
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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 RCV000635067 SCV000756445 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-04-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492971 SCV002803988 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004965618 SCV005552802 uncertain significance Inborn genetic diseases 2024-07-17 criteria provided, single submitter clinical testing The c.3650G>A (p.R1217H) 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 3650, causing the arginine (R) at amino acid position 1217 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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