Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001247771 | SCV001421214 | pathogenic | Developmental and epileptic encephalopathy, 9 | 2020-06-07 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with PCDH19-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala547Valfs*24) in the PCDH19 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCDH19 are known to be pathogenic (PMID: 21053371). For these reasons, this variant has been classified as Pathogenic. |