ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.8250T>A (p.Cys2750Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001385491 SCV001585365 pathogenic Primary ciliary dyskinesia 2020-05-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys2750*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DNAH5-related conditions. Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). For these reasons, this variant has been classified as Pathogenic.

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