Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514200 | SCV000610316 | likely pathogenic | not provided | 2017-05-03 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000660226 | SCV000782227 | likely pathogenic | Developmental and epileptic encephalopathy, 9 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000660226 | SCV001396504 | pathogenic | Developmental and epileptic encephalopathy, 9 | 2022-08-16 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr605*) 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). ClinVar contains an entry for this variant (Variation ID: 445698). For these reasons, this variant has been classified as Pathogenic. |