ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) (rs150946659)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724401 SCV000232961 uncertain significance not provided 2014-12-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000180506 SCV000710877 uncertain significance not specified 2016-09-22 criteria provided, single submitter clinical testing The p.Ser347Leu variant in SLC26A4 has not been previously reported in individua ls with hearing loss or Pendred syndrome. This variant has been identified in 2/ 10406 African chromosomes 6/66702 by the Exome Aggregation Consortium (ExAC, htt p://; dbSNP rs150946659). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ser347Leu varian t is uncertain.

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.