ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1610G>A (p.Arg537His)

gnomAD frequency: 0.00010  dbSNP: rs548407874
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711057 SCV000841384 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001316213 SCV001506820 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-05-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493260 SCV002796423 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026797 SCV004915118 uncertain significance Inborn genetic diseases 2023-11-03 criteria provided, single submitter clinical testing The c.1610G>A (p.R537H) alteration is located in exon 9 (coding exon 8) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 1610, causing the arginine (R) at amino acid position 537 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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