ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11533C>T (p.Arg3845Ter) (rs1309805676)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760669 SCV000890561 likely pathogenic not provided 2018-07-26 criteria provided, single submitter clinical testing The R3845X variant in the DNAH11 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 R3845X variant is observed in 3/276258 (0.001%) alleles in large population cohorts (Lek et al., 2016). We interpret R3845X as a likely pathogenic variant.
Invitae RCV001041829 SCV001205472 pathogenic Primary ciliary dyskinesia 2019-11-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg3845*) in the DNAH11 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 DNAH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 620303). 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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