Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001321101 | SCV001511916 | uncertain significance | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2022-01-28 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 2703). 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. Experimental studies have shown that this missense change affects CACNA1H function (PMID: 14729682, 15888660). 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. This missense change has been observed in individual(s) with clinical features of CACNA1H-related conditions (PMID: 12891677, 31130284). 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 valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 831 of the CACNA1H protein (p.Val831Met). |
| OMIM | RCV000002822 | SCV000022980 | risk factor | Epilepsy, childhood absence, susceptibility to, 6 | 2004-03-12 | no assertion criteria provided | literature only |