ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter)

gnomAD frequency: 0.00002  dbSNP: rs368119540
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169404 SCV000220803 likely pathogenic Pendred syndrome 2014-10-15 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV001061760 SCV001226515 pathogenic not provided 2023-05-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Trp640*) 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 present in population databases (rs368119540, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with clinical features of Pendred syndrome (PMID: 22412181, 25394566). ClinVar contains an entry for this variant (Variation ID: 189017).
Genome-Nilou Lab RCV000169404 SCV002026958 pathogenic Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003474912 SCV004201892 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2024-02-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005031696 SCV005673650 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 2024-02-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000169404 SCV001459932 pathogenic Pendred syndrome 2020-09-16 no assertion criteria provided 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.