ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6617C>T (p.Pro2206Leu)

gnomAD frequency: 0.00002  dbSNP: rs754398374
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705846 SCV000834863 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-07-07 criteria provided, single submitter clinical testing
GeneDx RCV001766560 SCV002008812 uncertain significance not provided 2020-07-02 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002477630 SCV002776741 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-07-03 criteria provided, single submitter clinical testing

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