Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670213 | SCV000795043 | uncertain significance | Pendred syndrome | 2017-10-26 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003472122 | SCV004202424 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2022-02-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003558506 | SCV004295503 | pathogenic | not provided | 2022-11-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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: 554553). This missense change has been observed in individual(s) with Pendred syndrome (PMID: 15611902, 20601923). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs777641484, gnomAD 0.003%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 669 of the SLC26A4 protein (p.Asp669Asn). |