ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del) (rs777008062)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410744 SCV000485793 likely pathogenic Pendred syndrome 2016-02-17 criteria provided, single submitter clinical testing
Invitae RCV001202765 SCV001373891 pathogenic not provided 2019-06-13 criteria provided, single submitter clinical testing This variant, c.1181_1183del, results in the deletion of 1 amino acid(s) of the SLC26A4 protein (p.Phe394del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs777008062, ExAC 0.006%). This variant has been observed to segregate with Pendred syndrome in a family and has been reported in combination with another SLC26A4 variant in several individuals affected with this disease or nonsyndromic enlarged vestibular aqueduct (PMID: 11502831, 30086623, 25372295). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as S394del or c.1178delTCT in the literature. ClinVar contains an entry for this variant (Variation ID: 370463). Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. For these reasons, this variant has been classified as Pathogenic.

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.