ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6022A>T (p.Ile2008Phe)

gnomAD frequency: 0.00001  dbSNP: rs753483216
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587106 SCV005077143 uncertain significance not specified 2024-04-19 criteria provided, single submitter clinical testing Variant summary: VPS13B c.6097A>T (p.Ile2033Phe) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 250610 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.6097A>T in individuals affected with Cohen Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 991547). Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001279773 SCV001466894 uncertain significance Cohen syndrome 2020-09-04 no assertion criteria provided clinical testing

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.