ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.9124C>T (p.Arg3042Ter) (rs760595654)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797061 SCV000936601 pathogenic Primary ciliary dyskinesia 2018-11-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg3042*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs760595654, ExAC 0.01%). This variant has not been reported in the literature in individuals with DNAH5-related disease. Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). For these reasons, this variant has been classified as Pathogenic.
Johns Hopkins Genomics, Johns Hopkins University RCV001250558 SCV001425392 pathogenic Ciliary dyskinesia, primary, 3 2020-04-02 criteria provided, single submitter clinical testing This nonsense variant results in a premature stop codon in exon 55 likely leading to nonsense-mediated decay and lack of protein production. DNAH5 c.9124C>T is absent from a large population dataset and has not been reported in the literature, to our knowledge. A single submitter in ClinVar classifies this variant as pathogenic. We consider this variant to be pathogenic.

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