ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11050del (p.Leu3684fs)

dbSNP: rs386834058
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000050045 SCV000957659 pathogenic Cohen syndrome 2018-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu3709Serfs*61) 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). This variant has been observed in individuals affected with Cohen syndrome (PMID: 17990063). ClinVar contains an entry for this variant (Variation ID: 56632). 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.
Fulgent Genetics, Fulgent Genetics RCV000050045 SCV002797994 pathogenic Cohen syndrome 2022-05-17 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050045 SCV000082454 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely 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.