ClinVar Miner

Submissions for variant NM_181426.2(CCDC39):c.1874+1G>A

dbSNP: rs1553803540
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541225 SCV000624541 pathogenic Primary ciliary dyskinesia 2017-05-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CCDC39 are known to be pathogenic (PMID: 21131972, 23255504). This variant has not been reported in the literature in individuals with a CCDC39-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 13 of the CCDC39 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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