Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556400 | SCV000624531 | pathogenic | Primary ciliary dyskinesia | 2022-06-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 264). This premature translational stop signal has been observed in individual(s) with primary ciliary dyskinesia (PMID: 19944400). This variant is present in population databases (rs267607225, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg271*) in the DNAAF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAAF1 are known to be pathogenic (PMID: 19944400, 19944405). |
OMIM | RCV000000288 | SCV000020432 | pathogenic | Primary ciliary dyskinesia 13 | 2009-12-01 | no assertion criteria provided | literature only | |
Gene |
RCV000000288 | SCV000087265 | pathologic | Primary ciliary dyskinesia 13 | 2011-09-15 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |