ClinVar Miner

Submissions for variant NM_014780.5(CUL7):c.649_654del (p.Ser217_Arg218del)

dbSNP: rs1340929933
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002238638 SCV002511808 likely pathogenic 3-M syndrome 2022-04-08 criteria provided, single submitter clinical testing Variant summary: CUL7 c.649_654delAGCCGC (p.Ser217_Arg218del) results in an in-frame deletion that is predicted to remove two highly conserved amino acids from the encoded protein. The variant was absent in 251496 control chromosomes. c.649_654delAGCCGC has been reported in the literature at least one large consanguineous family in the homozygous state in affected individuals with characteristic radiologic findings of Three M Syndrome 1 (eg. Akawi_2011). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as 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.