ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.3133C>T (p.Arg1045Ter) (rs377691013)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760753 SCV000890647 pathogenic not provided 2018-10-17 criteria provided, single submitter clinical testing The R1045X variant in the DNAH11 gene has not been published in a peer reviewed journal as a pathogenic variant, nor as a benign variant, to our knowledge. However, in an abstract by Finkas et al. (2013), the R1045X variant was reported in an individual with primary ciliary dyskinesia who had an additional disease-causing variant in the DNAH11 gene. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1045X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R1045X as a pathogenic variant.
Invitae RCV001069750 SCV001234940 pathogenic Primary ciliary dyskinesia 2019-09-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1045*) in the DNAH11 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs377691013, ExAC 0.001%). This variant has not been reported in the literature in individuals with DNAH11-related conditions. Loss-of-function variants in DNAH11 are known to be pathogenic (PMID: 18022865, 20513915, 22184204). For these reasons, this variant has been classified as Pathogenic.

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