ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1343C>G (p.Ala448Gly)

dbSNP: rs770949848
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001988598 SCV002277370 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-07-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1488459). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 448 of the CACNA1H protein (p.Ala448Gly).
Fulgent Genetics, Fulgent Genetics RCV002486549 SCV002792342 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-01-18 criteria provided, single submitter clinical testing

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