Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000557975 | SCV000624130 | pathogenic | Primary ciliary dyskinesia | 2019-05-09 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1523*) in the DNAH11 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with DNAH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 454676). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DNAH11 are known to be pathogenic (PMID: 18022865, 20513915, 22184204). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. |