ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5943-9_5943-5del

dbSNP: rs773330060
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
Undiagnosed Diseases Network, NIH RCV001598701 SCV001827218 pathogenic Vici syndrome 2021-04-12 criteria provided, single submitter clinical testing This homozygous deletion at an acceptor site was analyzed in patient cells (with and without puromycin to inhibit NMD) and demonstrated exon skipping of coding exon 35 that was NMD dependent.
AiLife Diagnostics, AiLife Diagnostics RCV002224088 SCV002502914 likely pathogenic not provided 2022-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001598701 SCV004263220 likely pathogenic Vici syndrome 2024-01-11 criteria provided, single submitter clinical testing This sequence change falls in intron 34 of the EPG5 gene. It does not directly change the encoded amino acid sequence of the EPG5 protein. RNA analysis indicates that this variant induces altered splicing and likely disrupts the C-terminus of the protein. This variant is present in population databases (rs773330060, gnomAD 0.01%). This variant has been observed in individual(s) with clinical features of Vici syndrome (PMID: 31226715). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. Studies have shown that this variant results in skipping of exon 35 and introduces a new termination codon (PMID: 31226715). However the mRNA is not expected to undergo nonsense-mediated decay. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Revvity Omics, Revvity RCV001598701 SCV003833529 uncertain significance Vici syndrome 2021-03-12 flagged submission clinical testing

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.