ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5171del (p.Gln1723_Leu1724insTer)

dbSNP: rs1434257397
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000809091 SCV000949231 pathogenic Cohen syndrome 2018-09-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with VPS13B-related disease. This sequence change creates a premature translational stop signal (p.Leu1749*) in the VPS13B gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111). For these reasons, this variant has been 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.