Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000667499 | SCV000791959 | uncertain significance | Pendred syndrome | 2017-06-01 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002477489 | SCV002778554 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome | 2022-05-03 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV003558493 | SCV004294531 | pathogenic | not provided | 2023-08-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Glu29 amino acid residue in SLC26A4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11317356, 15355436, 16570074, 19017801, 20597900, 25394566). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 expected to disrupt SLC26A4 protein function. ClinVar contains an entry for this variant (Variation ID: 552271). This missense change has been observed in individuals with SLC26A4-related conditions (PMID: 25372295, 30762455). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 29 of the SLC26A4 protein (p.Glu29Gly). |