Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001065148 | SCV001230091 | pathogenic | Primary ciliary dyskinesia | 2019-12-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CCDC40 are known to be pathogenic (PMID: 21131974, 22693285, 23255504). This variant has been observed to segregate with primary ciliary dyskinesia in a family (PMID: 21131974) and has also been observed in individuals affected with primary ciliary diskinesia (PMID: 23255504, 22693285, 26228299). The variant is also known as c.1366C>T (p.R449X) in the literature. ClinVar contains an entry for this variant (Variation ID: 31072). This sequence change creates a premature translational stop signal (p.Arg449*) in the CCDC40 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). |
Genetics and Molecular Pathology, |
RCV000024066 | SCV002761695 | pathogenic | Primary ciliary dyskinesia 15 | 2019-10-23 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000024066 | SCV002775906 | pathogenic | Primary ciliary dyskinesia 15 | 2022-03-28 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000024066 | SCV000045357 | pathogenic | Primary ciliary dyskinesia 15 | 2011-01-01 | no assertion criteria provided | literature only |