ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1390G>A (p.Val464Met)

gnomAD frequency: 0.00002  dbSNP: rs61910721
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635016 SCV000756394 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002529828 SCV003731227 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.1390G>A (p.V464M) 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 1390, causing the valine (V) at amino acid position 464 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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