ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8746C>T (p.Gln2916Ter) (rs797045085)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000190577 SCV000245600 pathogenic Ciliary dyskinesia, primary, 7 2014-08-01 criteria provided, single submitter clinical testing The Gln2916X variant in DNAH11 has not been previously reported in individuals with PCD or in large population studies. This nonsense variant leads to a premature termination codon at position 2916, which is predicted to lead to a truncated or absent protein. Complete loss of DNAH11 function is an established disease mechanism in PCD. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).
Invitae RCV000707003 SCV000836080 pathogenic Primary ciliary dyskinesia 2018-06-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2916*) 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 disease. ClinVar contains an entry for this variant (Variation ID: 208572). 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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