ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: 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 2023-09-20 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. Loss-of-function variants in DNAH11 are known to be pathogenic (PMID: 18022865, 20513915, 22184204). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DNAH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 620303). For these reasons, this variant has been classified as Pathogenic.

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