ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter)

dbSNP: rs587776940
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
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 (formerly Invitae), Labcorp 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.
PreventionGenetics, part of Exact Sciences 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.