ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3331G>C (p.Gly1111Arg)

dbSNP: rs59529743
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693808 SCV000822226 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1111 of the CACNA1H protein (p.Gly1111Arg). This variant is present in population databases (rs59529743, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. ClinVar contains an entry for this variant (Variation ID: 572432). 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 not expected to disrupt CACNA1H protein function. 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.
Athena Diagnostics Inc RCV000711087 SCV000841414 uncertain significance not provided 2018-04-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507206 SCV002816946 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-05-18 criteria provided, single submitter clinical testing

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