ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs) (rs1554358720)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hereditary Hearing Loss Research Unit,University of Madras RCV000498741 SCV000323136 pathogenic Autosomal recessive nonsyndromic deafness 2016-10-18 no assertion criteria provided clinical testing This mutation causes Nonsense Mediated Decay (NMD), that truncates the fully functional pendrin protein of 780 aa to 466 amino acids length of non-functional mRNA

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.