ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1895C>A (p.Pro632His)

gnomAD frequency: 0.00004  dbSNP: rs747807971
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689994 SCV000817667 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544860 SCV003696242 uncertain significance Inborn genetic diseases 2021-09-14 criteria provided, single submitter clinical testing The c.1895C>A (p.P632H) alteration is located in exon 9 (coding exon 8) of the CACNA1H gene. This alteration results from a C to A substitution at nucleotide position 1895, causing the proline (P) at amino acid position 632 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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