Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000472562 | SCV000547202 | pathogenic | Primary ciliary dyskinesia | 2023-01-13 | 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: 407770). This variant has not been reported in the literature in individuals affected with CCDC40-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu426*) 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). |
| Revvity Omics, |
RCV001782939 | SCV002016963 | pathogenic | Primary ciliary dyskinesia 15 | 2020-02-18 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000472562 | SCV002686356 | pathogenic | Primary ciliary dyskinesia | 2016-08-01 | criteria provided, single submitter | clinical testing | The p.E426* pathogenic mutation (also known as c.1276G>T), located in coding exon 8 of the CCDC40 gene, results from a G to T substitution at nucleotide position 1276. This changes the amino acid from a glutamic acid to a stop codon within coding exon 8. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |