ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8444T>G (p.Leu2815Ter)

dbSNP: rs1293819249
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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 RCV001933457 SCV002201988 pathogenic Primary ciliary dyskinesia 2021-09-24 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DNAH11-related conditions. For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Leu2815*) 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).

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