ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.400_403del (p.Glu134fs) (rs312262830)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000590449 SCV000693898 pathogenic Joubert syndrome 10 2017-06-25 criteria provided, single submitter research De novo variant in proband, maternity and paternity confirmed (PS2). Previously reported pathogenic in 2 manuscripts but unclear if same patient described (PMID: 18546297; PMID: 24884629). Protein truncating variants are a known disease mechainism (PVS1) and absent from gnomAD (PM2).
Baylor Genetics RCV000850574 SCV000992795 pathogenic Orofaciodigital syndrome I; Simpson-Golabi-Behmel syndrome, type 2; Joubert syndrome 10 2017-12-31 criteria provided, single submitter clinical testing
Invitae RCV001045035 SCV001208864 pathogenic Joubert syndrome; Orofaciodigital syndrome I 2020-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu134Ilefs*10) 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 observed in individual(s) with oral-facial-digital syndrome (PMID: 18546297). ClinVar contains an entry for this variant (Variation ID: 41117). 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.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268797 SCV001447981 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneReviews RCV000034016 SCV000057946 pathologic Orofaciodigital syndrome I 2013-02-28 no assertion criteria provided curation Converted during submission to 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.