Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Inherited Metabolic Diseases, |
RCV001089697 | SCV001245180 | pathogenic | Developmental and epileptic encephalopathy, 9 | 2020-02-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001089697 | SCV004437253 | pathogenic | Developmental and epileptic encephalopathy, 9 | 2023-02-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe853Thrfs*10) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of PCDH19-related conditions (PMID: 32105270). ClinVar contains an entry for this variant (Variation ID: 870162). For these reasons, this variant has been classified as Pathogenic. |