ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11521C>T (p.Arg3841Ter)

gnomAD frequency: 0.00001  dbSNP: rs988794959
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001387359 SCV001587972 pathogenic Primary ciliary dyskinesia 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg3841*) 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 0.006%). 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: 1074145). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002469391 SCV002765223 uncertain significance not provided 2022-06-17 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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