ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter)

dbSNP: rs387907093
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065148 SCV001230091 pathogenic Primary ciliary dyskinesia 2019-12-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CCDC40 are known to be pathogenic (PMID: 21131974, 22693285, 23255504). This variant has been observed to segregate with primary ciliary dyskinesia in a family (PMID: 21131974) and has also been observed in individuals affected with primary ciliary diskinesia (PMID: 23255504, 22693285, 26228299). The variant is also known as c.1366C>T (p.R449X) in the literature. ClinVar contains an entry for this variant (Variation ID: 31072). This sequence change creates a premature translational stop signal (p.Arg449*) in the CCDC40 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency).
Genetics and Molecular Pathology, SA Pathology RCV000024066 SCV002761695 pathogenic Primary ciliary dyskinesia 15 2019-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000024066 SCV002775906 pathogenic Primary ciliary dyskinesia 15 2022-03-28 criteria provided, single submitter clinical testing
OMIM RCV000024066 SCV000045357 pathogenic Primary ciliary dyskinesia 15 2011-01-01 no assertion criteria provided literature only

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