ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2784_2788TAAAA[1] (p.Ile930fs) (rs797044945)

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 RCV000190791 SCV000244232 pathogenic Inborn genetic diseases 2013-10-25 criteria provided, single submitter clinical testing
Invitae RCV000688416 SCV000816026 pathogenic Joubert syndrome; Orofaciodigital syndrome I 2019-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile930Lysfs*8) in the OFD1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported as hemizygous in the literature in individuals affected with Joubert syndrome, and determined to be de novo in at lease one of them (PMID: 23036093, 25356970). ClinVar contains an entry for this variant (Variation ID: 208769). Loss-of-function variants in OFD1 are known to be pathogenic (PMID: 16783569, 18546297, 27081566). For these reasons, this variant has been classified as 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.