Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000698577 | SCV000827250 | pathogenic | Primary ciliary dyskinesia | 2023-05-15 | 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: 576151). This variant has not been reported in the literature in individuals affected with CCDC40-related conditions. This variant is present in population databases (rs764551914, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Gln139*) in the CCDC40 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CCDC40 are known to be pathogenic (PMID: 21131974, 22693285, 23255504). |