ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1609C>T (p.Arg537Cys)

gnomAD frequency: 0.00004  dbSNP: rs528341556
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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 RCV000796877 SCV000936409 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258973 SCV003983516 uncertain significance Inborn genetic diseases 2023-05-24 criteria provided, single submitter clinical testing The c.1609C>T (p.R537C) 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 1609, causing the arginine (R) at amino acid position 537 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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