ClinVar Miner

Submissions for variant NM_021147.5(CCNO):c.263_267dup (p.Val90fs)

dbSNP: rs587777502
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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 RCV000527185 SCV000624428 pathogenic Primary ciliary dyskinesia 2025-01-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val90Serfs*6) in the CCNO gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CCNO are known to be pathogenic (PMID: 24747639). This variant is present in population databases (rs587777502, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with congenital mucociliary clearance disorder (PMID: 24747639). ClinVar contains an entry for this variant (Variation ID: 139603). For these reasons, this variant has been classified as Pathogenic.
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital RCV000128544 SCV001499908 pathogenic Primary ciliary dyskinesia 29 2020-12-20 criteria provided, single submitter clinical testing
OMIM RCV000128544 SCV000172187 pathogenic Primary ciliary dyskinesia 29 2014-06-01 no assertion criteria provided literature only

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