Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000808606 | SCV000948720 | pathogenic | Primary ciliary dyskinesia | 2023-03-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln4391*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 652933). This variant has not been reported in the literature in individuals affected with DNAH11-related conditions. This variant is present in population databases (rs761855200, gnomAD 0.003%). |