Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000803189 | SCV000943051 | pathogenic | Primary ciliary dyskinesia | 2023-12-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu1889Aspfs*12) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). This variant is present in population databases (rs767779749, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with primary ciliary dyskinesia (Invitae). ClinVar contains an entry for this variant (Variation ID: 648455). For these reasons, this variant has been classified as Pathogenic. |
UNC Molecular Genetics Laboratory, |
RCV000803189 | SCV001431721 | likely pathogenic | Primary ciliary dyskinesia | 2018-07-05 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001784423 | SCV002017284 | likely pathogenic | Primary ciliary dyskinesia 3 | 2021-10-14 | criteria provided, single submitter | clinical testing |