ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11655del (p.Val3886fs)

dbSNP: rs1212294259
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267065 SCV001445246 pathogenic Inborn genetic diseases 2018-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001880131 SCV002190564 pathogenic Cohen syndrome 2020-12-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val3911Serfs*31) in the VPS13B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 112 amino acid(s) of the VPS13B protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the VPS13B protein. Other variant(s) that disrupt this region (p.Pro3969Leufs*41) have been determined to be pathogenic (PMID: 15141358, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 985909). This variant is not present in population databases (ExAC no frequency).

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.