ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5695C>T (p.Pro1899Ser)

gnomAD frequency: 0.00001  dbSNP: rs367594144
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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 RCV001925098 SCV002176984 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003264221 SCV003948998 uncertain significance Inborn genetic diseases 2023-04-17 criteria provided, single submitter clinical testing The c.5695C>T (p.P1899S) 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 5695, causing the proline (P) at amino acid position 1899 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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