ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) (rs397516427)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036476 SCV000060131 likely pathogenic Rare genetic deafness 2012-03-22 criteria provided, single submitter clinical testing The Lys715Asn variant in SLC26A4 has been reported in a heterozygous state in th ree probands with hearing loss and was absent from 100 control samples (Dia 2009 , Anwar 2009). In addition, functional studies showed reduced Cl- anion exchange activity compared to the wild type (Dia 2009). Furthermore, the presence of thi s variant in combination with a pathogenic variant and in an individual with cli nical features of hearing loss and EVA, increases the likelihood that the Lys715 Asn variant is pathogenic. In summary, this variant is likely pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585409 SCV000693248 likely pathogenic not provided 2017-10-01 criteria provided, single submitter clinical testing
Counsyl RCV000675123 SCV000800691 uncertain significance Pendred syndrome 2018-04-10 criteria provided, single submitter 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.