ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) (rs111033285)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036253 SCV000059905 pathogenic Rare genetic deafness 2018-01-22 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000421042 SCV000521009 pathogenic not provided 2016-10-19 criteria provided, single submitter clinical testing The Y333X nonsense variant in the MYO7A gene has been published in association with Usher (Weston et al., 1996; Roux et al., 2011; Jacobson et al., 2008). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y333X variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000421042 SCV000854941 pathogenic not provided 2018-07-24 criteria provided, single submitter clinical testing
Counsyl RCV000670120 SCV000794937 pathogenic Deafness, autosomal recessive 2 2017-10-19 no assertion criteria provided clinical testing

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.