Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001044058 | SCV001207832 | uncertain significance | Primary ciliary dyskinesia | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with leucine at codon 686 of the DNAH8 protein (p.Ile686Leu). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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. |
UNC Molecular Genetics Laboratory, |
RCV001044058 | SCV001431605 | uncertain significance | Primary ciliary dyskinesia | 2019-12-12 | criteria provided, single submitter | clinical testing |