ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3559G>A (p.Gly1187Arg)

gnomAD frequency: 0.00001  dbSNP: rs772258959
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525280 SCV000632133 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258858 SCV003955520 uncertain significance Inborn genetic diseases 2023-06-05 criteria provided, single submitter clinical testing The c.3559G>A (p.G1187R) alteration is located in exon 17 (coding exon 16) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 3559, causing the glycine (G) at amino acid position 1187 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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