ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4787G>A (p.Arg1596His)

gnomAD frequency: 0.00004  dbSNP: rs1458781875
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000635037 SCV000756415 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-07-05 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 529578). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1596 of the CACNA1H protein (p.Arg1596His).
Fulgent Genetics, Fulgent Genetics RCV002477395 SCV002780549 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002529830 SCV003649119 uncertain significance Inborn genetic diseases 2022-09-22 criteria provided, single submitter clinical testing The c.4787G>A (p.R1596H) alteration is located in exon 27 (coding exon 26) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 4787, causing the arginine (R) at amino acid position 1596 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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