ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8141C>G (p.Ser2714Ter)

dbSNP: rs1237605731
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809053 SCV000949190 pathogenic Primary ciliary dyskinesia 2018-08-07 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with DNAH11-related disease. This sequence change creates a premature translational stop signal (p.Ser2714*) 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).

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