ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5480A>G (p.His1827Arg)

dbSNP: rs202070652
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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 RCV001969802 SCV002224939 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2021-08-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497824 SCV002777805 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002562816 SCV003660845 uncertain significance Inborn genetic diseases 2022-11-21 criteria provided, single submitter clinical testing The c.5480A>G (p.H1827R) alteration is located in exon 33 (coding exon 32) of the CACNA1H gene. This alteration results from a A to G substitution at nucleotide position 5480, causing the histidine (H) at amino acid position 1827 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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