Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000814643 | SCV000955060 | uncertain significance | Febrile seizures, familial, 11 | 2022-09-06 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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"). ClinVar contains an entry for this variant (Variation ID: 657933). This variant has not been reported in the literature in individuals affected with CPA6-related conditions. This variant is present in population databases (rs372728943, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 242 of the CPA6 protein (p.Gly242Val). |
| Fulgent Genetics, |
RCV002487786 | SCV002784959 | uncertain significance | Familial temporal lobe epilepsy 5; Febrile seizures, familial, 11 | 2021-11-05 | criteria provided, single submitter | clinical testing |