ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1592A>C (p.Lys531Thr) (rs111033191)

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 RCV000154281 SCV000203940 uncertain significance not specified 2015-12-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Lys531Thr variant in SLC26A4 has been previously reported by our laboratory in one indivi dual with hearing loss and EVA, who also has another reported pathogenic variant in SLC26A4 in trans. This variant has not been identified in large population s tudies. Computational prediction tools and conservation analyses suggest that th e p.Lys531Thr variant may impact the protein, though this information is not pre dictive enough to determine pathogenicity. However, the presence of this variant in trans with a reported pathogenic variant in SLC26A4 in an individual with he aring loss and EVA, the extremely low allele frequency in the general population , and computational predictions increase the likelihood that the p.Lys531Thr var iant is pathogenic. In summary, while there is some suspicion for a pathogenic role, the clinical significance of the p.Lys531Thr variant is uncertain.

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.