ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5218C>T (p.Gln1740Ter)

gnomAD frequency: 0.00001  dbSNP: rs958055112
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386176 SCV001586314 pathogenic Primary ciliary dyskinesia 2023-07-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1740*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with DNAH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 1073225). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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