Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000696160 | SCV000824708 | pathogenic | Primary ciliary dyskinesia | 2023-09-27 | 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: 574268). This premature translational stop signal has been observed in individual(s) with primary ciliary dyskinesia (PMID: 22499950). This sequence change creates a premature translational stop signal (p.Lys438*) 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). This variant is present in population databases (rs371595543, gnomAD 0.007%). |
Illumina Laboratory Services, |
RCV000779233 | SCV000915785 | uncertain significance | Primary ciliary dyskinesia 15 | 2017-09-08 | criteria provided, single submitter | clinical testing | Based on the potential impact of frameshift variants and the evidence, the p.Trp77LeufsTer13 variant is classified as likely pathogenic for Desbuquois dysplasia. |
Prevention |
RCV003965446 | SCV004786311 | pathogenic | CCDC40-related condition | 2023-12-15 | criteria provided, single submitter | clinical testing | The CCDC40 c.1312A>T variant is predicted to result in premature protein termination (p.Lys438*). This variant has been reported in the presumed compound heterozygous state in an individual with primary ciliary dyskinesia (Nakhleh et al. 2012. PubMed ID: 22499950). This variant is reported in 0.0065% of alleles in individuals of African descent in gnomAD. Nonsense variants in CCDC40 are expected to be pathogenic. This variant is interpreted as pathogenic. |