Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760669 | SCV000890561 | likely pathogenic | not provided | 2018-07-26 | criteria provided, single submitter | clinical testing | The R3845X variant in the DNAH11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R3845X variant is observed in 3/276258 (0.001%) alleles in large population cohorts (Lek et al., 2016). We interpret R3845X as a likely pathogenic variant. |
Invitae | RCV001041829 | SCV001205472 | pathogenic | Primary ciliary dyskinesia | 2023-09-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg3845*) in the DNAH11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH11 are known to be pathogenic (PMID: 18022865, 20513915, 22184204). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DNAH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 620303). For these reasons, this variant has been classified as Pathogenic. |