ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1753C>T (p.Pro585Ser)

gnomAD frequency: 0.00014  dbSNP: rs535609762
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711063 SCV000841390 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Invitae RCV000791737 SCV000930998 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534491 SCV003652921 uncertain significance Inborn genetic diseases 2021-06-11 criteria provided, single submitter clinical testing The c.1753C>T (p.P585S) alteration is located in exon 9 (coding exon 8) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 1753, causing the proline (P) at amino acid position 585 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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