ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4567C>T (p.Gln1523Ter)

dbSNP: rs1286036654
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557975 SCV000624130 pathogenic Primary ciliary dyskinesia 2019-05-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1523*) in the DNAH11 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with DNAH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 454676). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DNAH11 are known to be pathogenic (PMID: 18022865, 20513915, 22184204). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies.

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