ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.3129del (p.Phe1044fs) (rs1418585908)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694885 SCV000823351 pathogenic Primary ciliary dyskinesia 2018-08-14 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CCDC40 gene (p.Phe1044Serfs*35). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 98 amino acids of the CCDC40 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous in an individual affected with primary ciliary dyskinesia (PMID: 21131974). A different truncation (p.Tyr1118* ) that lies downstream of this variant has been determined to be pathogenic (Invitae). This suggests that deletion of this region of the CCDC40 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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