ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1502G>A (p.Gly501Glu)

gnomAD frequency: 0.00005  dbSNP: rs768197900
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546902 SCV000632083 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243178 SCV003944235 uncertain significance Inborn genetic diseases 2023-06-06 criteria provided, single submitter clinical testing The c.1502G>A (p.G501E) 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 1502, causing the glycine (G) at amino acid position 501 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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