ClinVar Miner

Submissions for variant NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter)

gnomAD frequency: 0.00001  dbSNP: rs375839864
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001849601 SCV004535809 pathogenic Primary ciliary dyskinesia 2023-04-08 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: 1344600). This premature translational stop signal has been observed in individual(s) with primary ciliary dyskinesia (PMID: 30067075). This variant is present in population databases (rs375839864, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Tyr452*) in the CCDC39 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CCDC39 are known to be pathogenic (PMID: 21131972, 23255504).
NHS Central & South Genomic Laboratory Hub RCV005253901 SCV005907221 pathogenic Respiratory ciliopathies including non-CF bronchiectasis 2025-04-09 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849601 SCV002106471 likely pathogenic Primary ciliary dyskinesia 2018-08-01 no assertion criteria provided literature only

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