ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5816C>T (p.Pro1939Leu)

gnomAD frequency: 0.00001  dbSNP: rs769441475
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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 RCV000698474 SCV000827140 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485707 SCV002777336 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004965688 SCV005552796 uncertain significance Inborn genetic diseases 2024-08-12 criteria provided, single submitter clinical testing The c.5816C>T (p.P1939L) alteration is located in exon 33 (coding exon 32) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 5816, causing the proline (P) at amino acid position 1939 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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