Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000819191 | SCV000959837 | uncertain significance | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2018-09-10 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with CACNA1H-related disease. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with alanine at codon 2221 of the CACNA1H protein (p.Pro2221Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. |