ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.50C>G (p.Ser17Cys) (rs28929485)

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, Partners HealthCare Personalized Medicine RCV000156624 SCV000206345 uncertain significance not specified 2014-06-30 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Ser17Cys va riant in GJB2 has not been previously reported in individuals with hearing loss and was absent from large population studies. Two different amino acid changes h ave been reported at this position, Ser17Phe and Ser17Tyr; the Ser17Phe variant has been associated with autosomal dominant Keratitis-Ichthyosis-Deafness syndro me (Mazereeuw-Hautier 2007, Richard 2002, Kim 2008, Lee 2009, Mazereeuw-Hautier 2014, Schutz 2011) and the Ser17Tyr variant was reported in one individual with nonsyndromic hearing loss who also carried a second pathogenic variant in the GJ B2 gene (Toth 2004). These findings suggest that changes at this position may no t be tolerated. Computational prediction tools and conservation analyses suggest that the Ser17Cys variant may impact the protein, though this information is no t predictive enough to determine pathogenicity. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is un certain.

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.