Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001243071 | SCV001416204 | pathogenic | Primary ciliary dyskinesia | 2020-03-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DNAH8 are known to be pathogenic (PMID: 24307375). This variant has not been reported in the literature in individuals with DNAH8-related conditions. This variant is present in population databases (rs747550558, ExAC 0.003%). This sequence change creates a premature translational stop signal (p.Arg3027*) in the DNAH8 gene. It is expected to result in an absent or disrupted protein product. |