Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000805722 | SCV000945690 | uncertain significance | Febrile seizures, familial, 11 | 2018-07-11 | 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CPA6 cause disease. This variant has not been reported in the literature in individuals with CPA6-related disease. This variant is present in population databases (rs760392592, ExAC 0.009%). This sequence change creates a premature translational stop signal (p.Ala55Hisfs*2) in the CPA6 gene. It is expected to result in an absent or disrupted protein product. |