ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6545G>A (p.Arg2182His)

gnomAD frequency: 0.00015  dbSNP: rs200724225
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001240292 SCV001413223 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491792 SCV002804309 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563972 SCV003712204 uncertain significance Inborn genetic diseases 2021-07-15 criteria provided, single submitter clinical testing The c.6545G>A (p.R2182H) alteration is located in exon 35 (coding exon 34) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 6545, causing the arginine (R) at amino acid position 2182 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Athena Diagnostics RCV004998763 SCV005620721 uncertain significance not provided 2024-12-09 criteria provided, single submitter clinical testing

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