Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002476930 | SCV002785735 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002512793 | SCV003440148 | pathogenic | not provided | 2023-04-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gln514 amino acid residue in SLC26A4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15689455, 25394566, 26969326). 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: 4841). This missense change has been observed in individuals with SLC26A4-related conditions (PMID: 18285825). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 514 of the SLC26A4 protein (p.Gln514Lys). |
OMIM | RCV000005113 | SCV000025290 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2008-08-01 | no assertion criteria provided | literature only | |
Gene |
RCV001753402 | SCV000153991 | not provided | Pendred syndrome | no assertion provided | literature only |