ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs) (rs587778819)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175218 SCV000226663 pathogenic not provided 2014-06-06 criteria provided, single submitter clinical testing
Invitae RCV000538390 SCV000624392 pathogenic Primary ciliary dyskinesia 2018-04-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg942Thrfs*57) in the CCDC40 gene. It is expected to result in an absent or disrupted protein product. This variant has been reported with a second pathogenic variant in an individual affected with primary ciliary dyskinesia (Invitae). ClinVar contains an entry for this variant (Variation ID: 194774). Loss-of-function variants in CCDC40 are known to be pathogenic (PMID: 21131974, 22693285, 23255504). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) RCV000578183 SCV000579339 pathogenic Kartagener syndrome no assertion criteria provided research Bioinformatic tools predict as potentially pathogenic. We found other potential pathogenic variant in same gene, CCDC40: NM_017950.3:c.1989+1G>A

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