Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001296883 | SCV001485860 | uncertain significance | Primary ciliary dyskinesia | 2020-10-08 | 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 DNAH5 protein function. This variant has not been reported in the literature in individuals with DNAH5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with proline at codon 1199 of the DNAH5 protein (p.Thr1199Pro). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and proline. |