Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000033116 | SCV000899142 | pathogenic | Vici syndrome | 2019-01-17 | criteria provided, single submitter | curation | This variant is interpreted as a Pathogenic for Vici syndrome, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PVS1 => Predicted nullvariant in a gene where LOF is a known mechanism of disease. PM3 => For recessive disorders, detected in trans with a pathogenic variant (PMID:26917586). |
Labcorp Genetics |
RCV000033116 | SCV002180532 | pathogenic | Vici syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1161*) 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). This variant is present in population databases (rs587776940, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Vici syndrome (PMID: 23222957). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 39982). For these reasons, this variant has been classified as Pathogenic. |
Prevention |
RCV003952387 | SCV004782277 | pathogenic | EPG5-related disorder | 2024-01-02 | criteria provided, single submitter | clinical testing | The EPG5 c.3481C>T variant is predicted to result in premature protein termination (p.Arg1161*). This variant has been reported in the apparently homozygous state in one individual with Vici syndrome (Table 1, Cullup T et al. 2012. PubMed ID: 23222957; Table 1, Byrne S et al. 2016. PubMed ID: 26917586). This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in EPG5 are expected to be pathogenic. This variant is interpreted as pathogenic. |
OMIM | RCV000033116 | SCV000056897 | pathogenic | Vici syndrome | 2013-01-01 | no assertion criteria provided | literature only |