Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649884 | SCV000771720 | uncertain significance | Febrile seizures, familial, 11 | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with histidine at codon 400 of the CPA6 protein (p.Arg400His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs746177954, ExAC 0.02%). This missense change has been observed in individual(s) with focal epilepsy (PMID: 27781031). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 539976). 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"). 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. |
Institute of Human Genetics, |
RCV002287433 | SCV002578094 | uncertain significance | See cases | 2021-12-08 | criteria provided, single submitter | clinical testing | ACMG categories: PM2,PP3 |