Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001369900 | SCV001566358 | uncertain significance | Primary ciliary dyskinesia | 2023-07-17 | criteria provided, single submitter | clinical testing | 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. 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 DNAH8 protein function. This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 4674 of the DNAH8 protein (p.Arg4674Thr). This variant is present in population databases (rs774150212, gnomAD 0.003%). This missense change has been observed in individuals with clinical features of primary ciliary dyskinesia (Invitae). ClinVar contains an entry for this variant (Variation ID: 1060464). |