Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001386219 | SCV001586359 | pathogenic | Primary ciliary dyskinesia | 2021-02-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). This variant has been observed in individual(s) with primary ciliary dyskinesia (PMID: 31469207). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu3293*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. |