ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4835C>T (p.Ser1612Leu)

gnomAD frequency: 0.00003  dbSNP: rs370292995
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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 RCV000635012 SCV000756390 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-02-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144406 SCV003828838 uncertain significance Hyperaldosteronism, familial, type IV 2022-03-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533321 SCV004727980 uncertain significance CACNA1H-related disorder 2024-08-13 no assertion criteria provided clinical testing The CACNA1H c.4835C>T variant is predicted to result in the amino acid substitution p.Ser1612Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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