ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3314G>A (p.Arg1105His)

gnomAD frequency: 0.00001  dbSNP: rs764071122
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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 RCV001986298 SCV002287198 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-08-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486561 SCV002785741 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003264373 SCV003945845 uncertain significance Inborn genetic diseases 2023-05-18 criteria provided, single submitter clinical testing The c.3314G>A (p.R1105H) alteration is located in exon 16 (coding exon 15) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 3314, causing the arginine (R) at amino acid position 1105 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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