ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) (rs80356590)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000211836 SCV000065176 pathogenic Rare genetic deafness 2012-03-26 criteria provided, single submitter clinical testing The Arg708X variant in OTOF has been reported in 3 individuals with hearing loss and segregated with disease in six affected family members (Choi 2009, Rodrigue z-Ballesteros 2003). This nonsense variant leads to a premature termination codo n at position 708, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http ://pcpgm.partners.org/LMM).
GeneDx RCV000760435 SCV000890318 pathogenic not provided 2018-08-03 criteria provided, single submitter clinical testing The R708X nonsense variant has been reported previously in association with hearing loss (Rodríguez-Ballesteros et al., 2003; Ammar-Khodja et al., 2015; Pandey et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is observed in 3/23830 (0.0126%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). We consider this variant to be pathogenic.
GeneReviews RCV000021043 SCV000041697 pathologic Deafness, autosomal recessive 9 2011-04-26 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.