ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7508_7509insTTG (p.Lys2504_Pro2505insTer) (rs797045086)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000190578 SCV000245601 pathogenic Ciliary dyskinesia, primary, 7 2015-01-21 criteria provided, single submitter clinical testing The p.Lys2504X variant in DNAH11 has not been previously reported in individuals with primary ciliary dyskinesia (PCD) and was absent from large population studies. This variant is an insertion of 3 bases and introduces a nonsense variant which leads to a premature termination codon at position 2504. This variant 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 for PCD in an autosomal recessive manner based on the predicted impact of the variant.

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