ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2537C>T (p.Ala846Val)

gnomAD frequency: 0.00001  dbSNP: rs779724136
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254968 SCV000321498 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing The A846V variant in the CACNA1H gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A846V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on currently available evidence, we interpret A846V as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003765566 SCV004579876 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-03-13 criteria provided, single submitter clinical testing

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