ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.2224C>T (p.Arg742Ter) (rs776686983)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763133 SCV000893692 likely pathogenic Ciliary dyskinesia, primary, 3 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000760890 SCV000890786 pathogenic not provided 2018-12-19 criteria provided, single submitter clinical testing The R742X variant in the DNAH5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R742X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R742X as a pathogenic variant.
Invitae RCV000559327 SCV000624233 pathogenic Primary ciliary dyskinesia 2017-08-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg742*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs776686983, ExAC 0.006%). This variant has not been reported in the literature in individuals with DNAH5-related disease. Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). For these reasons, this variant has been classified as Pathogenic.

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