ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.7915C>T (p.Arg2639Ter) (rs375053470)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622966 SCV000741043 pathogenic Inborn genetic diseases 2015-10-05 criteria provided, single submitter clinical testing
Invitae RCV000629487 SCV000750431 pathogenic Primary ciliary dyskinesia 2018-03-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2639*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs375053470, ExAC 0.01%). This particular variant has been reported in individuals affected with primary ciliary dyskinesia (PMID: 11788826, Invitae). 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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