ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4063G>A (p.Gly1355Ser)

gnomAD frequency: 0.00001  dbSNP: rs747715176
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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 RCV000703250 SCV000832143 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-10-12 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CACNA1H protein function. ClinVar contains an entry for this variant (Variation ID: 579864). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. This variant is present in population databases (rs747715176, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1355 of the CACNA1H protein (p.Gly1355Ser). 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.
Fulgent Genetics, Fulgent Genetics RCV002485740 SCV002791243 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-04-24 criteria provided, single submitter clinical testing

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