ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3422_3442del (p.Arg1141_Ser1147del)

dbSNP: rs746597383
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558176 SCV000632130 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-04-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 460087). This variant is present in population databases (rs754765356, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual. This variant, c.3422_3442del, results in the deletion of 7 amino acid(s) of the CACNA1H protein (p.Arg1141_Ser1147del), but otherwise preserves the integrity of the reading frame.
Fulgent Genetics, Fulgent Genetics RCV002497091 SCV002786132 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-04-12 criteria provided, single submitter clinical testing

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