ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln)

gnomAD frequency: 0.00001  dbSNP: rs200706874
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592539 SCV000708714 uncertain significance not provided 2017-05-26 criteria provided, single submitter clinical testing
Counsyl RCV000665694 SCV000789855 uncertain significance Pendred syndrome 2017-02-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785676 SCV002026993 uncertain significance Autosomal recessive nonsyndromic hearing loss 4 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000665694 SCV002026994 uncertain significance Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483650 SCV002785318 uncertain significance Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 2021-08-17 criteria provided, single submitter clinical testing
Invitae RCV000592539 SCV003440049 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 79 of the SLC26A4 protein (p.Arg79Gln). This variant is present in population databases (rs200706874, gnomAD 0.03%). This missense change has been observed in individual(s) with SLC26A4-related conditions (PMID: 23555729, 29605365). ClinVar contains an entry for this variant (Variation ID: 502106). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SLC26A4 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000592539 SCV003933084 uncertain significance not provided 2022-12-19 criteria provided, single submitter clinical testing Reported without a second variant in a patient with auditory neuropathy spectrum disorder in published literature (Dahl et al., 2013); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32508047, 23555729)
Revvity Omics, Revvity RCV000592539 SCV004237318 uncertain significance not provided 2023-05-12 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.