ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.3791_3792del (p.Arg1264fs)

dbSNP: rs749926976
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002214427 SCV002497504 pathogenic not provided 2022-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502031 SCV002807879 likely pathogenic Primary ciliary dyskinesia 7 2022-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003653584 SCV004513861 pathogenic Primary ciliary dyskinesia 2024-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1264Ilefs*10) 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). This variant is present in population databases (rs749926976, gnomAD 0.0009%). 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.

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