ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.424C>T (p.Gln142Ter)

dbSNP: rs1568667609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693536 SCV000821409 pathogenic Primary ciliary dyskinesia 2018-04-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln142*) 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). This variant has not been reported in the literature in individuals with CCDC40-related disease. 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.
Fulgent Genetics, Fulgent Genetics RCV002507205 SCV002795608 likely pathogenic Primary ciliary dyskinesia 15 2022-04-23 criteria provided, single submitter clinical testing

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