ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1765G>A (p.Ala589Thr)

gnomAD frequency: 0.00001  dbSNP: rs769240762
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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 RCV001366313 SCV001562614 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002550059 SCV003564088 uncertain significance Inborn genetic diseases 2022-06-27 criteria provided, single submitter clinical testing The c.1765G>A (p.A589T) alteration is located in exon 9 (coding exon 8) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 1765, causing the alanine (A) at amino acid position 589 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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