ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9391_9396dup (p.Met3131_Lys3132dup)

gnomAD frequency: 0.00002  dbSNP: rs747778859
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001215584 SCV001387336 uncertain significance Cohen syndrome 2022-07-06 criteria provided, single submitter clinical testing This variant, c.9466_9471dup, results in the insertion of 2 amino acid(s) of the VPS13B protein (p.Met3156_Lys3157dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs747778859, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 945048). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV003480999 SCV004224209 uncertain significance not provided 2022-02-04 criteria provided, single submitter clinical testing PM2_supporting, PM4

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.