ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.12196-2A>G

dbSNP: rs1554291973
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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 RCV000551406 SCV000624095 pathogenic Primary ciliary dyskinesia 2017-07-10 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 DNAH11 are known to be pathogenic (PMID: 18022865, 20513915, 22184204). This sequence change affects an acceptor splice site in intron 74 of the DNAH11 gene. It is expected to disrupt RNA splicing and likely results 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 DNAH11-related disease.

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