ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4003_4017dup (p.Gly1335_Gly1339dup) (rs1555907238)

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
GeneDx RCV000483532 SCV000570406 likely pathogenic not provided 2016-05-17 criteria provided, single submitter clinical testing The c.4003_4017dup15 variant in the TUBGCP6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.4003_4017dup15 variant causes an in-frame duplication of five amino acid residues, denoted p.Gly1335_Gly1339dup. The c.4003_4017dup15 variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We consider to be a strong candidate for a pathogenic variant.

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.