ClinVar Miner

Submissions for variant NM_004651.3(USP11):c.1599G>A (p.Thr533=)

gnomAD frequency: 0.00001  dbSNP: rs777516785
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) RCV000785881 SCV000902258 likely pathogenic Dynein arm defect of respiratory motile cilia; Absent inner and outer dynein arms; Abnormal ciliary motility; Bronchiectasis criteria provided, single submitter clinical testing The variant detected in a patient with kartagner syndrome lacking both dynein arms in its axoneme. This is a synonymous variant that is predicted to affect splicing and reduced mRNA expression were observed in the patient's cells.

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