Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV000578398 | SCV000680213 | pathogenic | Vici syndrome | 2017-10-25 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000578398 | SCV004640893 | pathogenic | Vici syndrome | 2023-06-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 488506). This premature translational stop signal has been observed in individual(s) with EPG5-related conditions (PMID: 31130284). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg642*) in the EPG5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EPG5 are known to be pathogenic (PMID: 23222957, 23674064). |