ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4089C>G (p.Ser1363Arg)

gnomAD frequency: 0.00001  dbSNP: rs867556563
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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 RCV001988680 SCV002271062 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-02-04 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 1363 of the CACNA1H protein (p.Ser1363Arg). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 1488617). 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738122 SCV004562650 uncertain significance not provided 2023-09-28 criteria provided, single submitter clinical testing

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