ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3563C>T (p.Pro1188Leu)

gnomAD frequency: 0.00001  dbSNP: rs894257173
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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 RCV001864916 SCV002118289 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-03-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039732 SCV004915146 uncertain significance Inborn genetic diseases 2024-03-04 criteria provided, single submitter clinical testing The c.3563C>T (p.P1188L) alteration is located in exon 17 (coding exon 16) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 3563, causing the proline (P) at amino acid position 1188 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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