ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.458C>G (p.Ser153Ter)

dbSNP: rs876657710
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216690 SCV000271418 pathogenic Rare genetic deafness 2015-03-25 criteria provided, single submitter clinical testing The p.Ser153X variant in MYO6 has not been previously reported in individuals wi th hearing loss and was absent from large population studies. This nonsense vari ant leads to a premature termination codon at position 153, which is predicted t o lead to a truncated or absent protein. Loss-of-function variants in the MYO6 g ene have been reported in families with nonsyndromic hearing loss with either a dominant or recessive pattern of inheritance (Ahmed 2003, Hilgert 2008, Sanggaar d 2008), and in vitro studies support a causal role for MYO6 variants in hearing loss (Avraham, 1995, Kiernan 1999, Williams 2013). In summary, this variant mee ts our criteria to be classified as pathogenic (www.partners.org/personalizedmed icine/lmm).

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.