ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.2647C>T (p.Gln883Ter)

dbSNP: rs755004291
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822169 SCV000962960 pathogenic Primary ciliary dyskinesia 2018-09-21 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 not been reported in the literature in individuals with CCDC40-related disease. This variant is present in population databases (rs755004291, ExAC 0.002%). This sequence change creates a premature translational stop signal (p.Gln883*) in the CCDC40 gene. It is expected to result in an absent or disrupted protein product.

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