ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.415C>T (p.Gln139Ter)

gnomAD frequency: 0.00001  dbSNP: rs764551914
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698577 SCV000827250 pathogenic Primary ciliary dyskinesia 2023-05-15 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: 576151). This variant has not been reported in the literature in individuals affected with CCDC40-related conditions. This variant is present in population databases (rs764551914, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Gln139*) 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).

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