ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter)

dbSNP: rs201636911
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409402 SCV000486931 likely pathogenic Pendred syndrome 2016-09-07 criteria provided, single submitter clinical testing
Invitae RCV000797602 SCV000937168 pathogenic not provided 2023-09-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu48*) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC26A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 371369). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000409402 SCV002026509 likely pathogenic Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475968 SCV004201881 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2023-08-28 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.