ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His)

gnomAD frequency: 0.00068  dbSNP: rs200228767
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000635094 SCV000756472 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-12-01 criteria provided, single submitter clinical testing
GeneDx RCV002289937 SCV002578823 uncertain significance not provided 2023-04-14 criteria provided, single submitter clinical testing Observed in several unrelated patients with seizures and in one unaffected parent; however, other genes associated with seizures were not sequenced in these individuals (Heron et al., 2007); Functional studies showed that this variant did not alter channel properties (Heron et al., 2007); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28488083, 17696120, 31217264)
Fulgent Genetics, Fulgent Genetics RCV002499057 SCV002807926 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-10-08 criteria provided, single submitter clinical testing

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