ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.3354C>A (p.Tyr1118Ter) (rs374909386)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176107 SCV000227705 pathogenic not provided 2014-06-06 criteria provided, single submitter clinical testing
Invitae RCV000544631 SCV000624401 pathogenic Primary ciliary dyskinesia 2018-09-27 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CCDC40 gene (p.Tyr1118*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 25 amino acids of the CCDC40 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another CCDC40 variant in individuals affected with primary ciliary dyskinesia (Invitae). ClinVar contains an entry for this variant (Variation ID: 195522). For these reasons, this variant has been classified as Pathogenic.

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