Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000691082 | SCV000818825 | pathogenic | Vici syndrome | 2017-11-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EPG5 are known to be pathogenic (PMID: 23222957, 23674064). This variant has not been reported in the literature in individuals with EPG5-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1205Argfs*6) in the EPG5 gene. It is expected to result in an absent or disrupted protein product. |