ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2153T>C (p.Phe718Ser) (rs750834241)

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 RCV000441837 SCV000521214 likely pathogenic not provided 2016-08-18 criteria provided, single submitter clinical testing The F718S variant in the SLC26A4 gene has been reported previously in association with hearing loss, in an individual who was heterozygous for the F718S and another variant (Sommen et al., 2016), and in individuals with were heterozygous for the F718S variant and no second variant identified (Mercer et al., 2011; Landa et al., 2013). The F718S variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The F718S 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. This substitution occurs at a position where amino acids with similar properties to Phenylalanine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (R714K, K715N, D716G, T721M, H723Y, H723D, H723R) have been reported in the Human Gene Mutation Database in association with hearing loss (Stenson et al., 2014), supporting the functional importance of this region of the protein. The F718S variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Counsyl RCV000984219 SCV001132293 uncertain significance Pendred syndrome 2018-08-03 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.