ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.13501_13502insGGACTGCAAAATGGGTTCTGGCTGGAGTGGCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTGCAGTGAGGATTTTCTAGCATGTTGCTGCACTGTTCCCATTCTGGACCTTCAGGCTGAAGAGCGAAGAGA (p.Lys4501delinsArgThrAlaLysTrpValLeuAlaGlyValAlaLeuLeuLeuGluAlaTer)

dbSNP: rs1554294459
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000231134 SCV000286986 pathogenic Primary ciliary dyskinesia 2021-02-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys4501Argfs*17) in the DNAH11 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acid(s) of the DNAH11 protein. This variant has not been reported in the literature in individuals with DNAH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 238901). This variant disrupts the C-terminus of the DNAH11 protein. Other variant(s) that disrupt this region (p.Trp4505Serfs*10) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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