ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5659_5660del (p.Asp1887fs)

dbSNP: rs2049058963
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001265567 SCV001443726 pathogenic Vici syndrome 2019-11-01 criteria provided, single submitter clinical testing This frameshifting variant in exon 32 of 44 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge. However, multiple loss of function variants that lie further toward the C-terminal end of the EPG5 gene have been reported in individuals with Vici Syndrome (PMID: 23222957, 26917586). This variant is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Based on the available evidence, the c.5659_5660del (p.Asp1887GlnfsTer16) variant is classified as Pathogenic.

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.