ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3581G>A (p.Arg1194Gln)

gnomAD frequency: 0.00006  dbSNP: rs759668583
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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 RCV000635044 SCV000756422 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492968 SCV002779744 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002529832 SCV003550775 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.3581G>A (p.R1194Q) 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 3581, causing the arginine (R) at amino acid position 1194 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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