ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.535G>A (p.Ala179Thr) (rs114473792)

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
GeneDx RCV000480978 SCV000573568 uncertain significance not provided 2017-11-10 criteria provided, single submitter clinical testing The A179T variant in the SLC26A4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not present in the homozygous state, the A179T variant is observed in 38/10406 (0.37%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). The A179T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret A179T as a variant of uncertain significance.
Invitae RCV000480978 SCV001068483 likely benign not provided 2019-02-27 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.