Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001039349 | SCV001202879 | pathogenic | Primary ciliary dyskinesia | 2022-07-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu1199Serfs*17) 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 not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 837909). This variant has not been reported in the literature in individuals affected with DNAH11-related conditions. |
Equipe Genetique des Anomalies du Developpement, |
RCV003224882 | SCV003920977 | pathogenic | Primary ciliary dyskinesia 7 | 2023-03-23 | criteria provided, single submitter | clinical testing | This variant was observed in heterozygosity with variant c.3040C>T |