ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6199G>A (p.Val2067Ile)

gnomAD frequency: 0.00007  dbSNP: rs370883583
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635033 SCV000756411 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483799 SCV002781738 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-03-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002528871 SCV003699250 uncertain significance Inborn genetic diseases 2021-08-10 criteria provided, single submitter clinical testing The c.6199G>A (p.V2067I) alteration is located in exon 35 (coding exon 34) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 6199, causing the valine (V) at amino acid position 2067 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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