ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.10441C>T (p.Arg3481Ter) (rs886039500)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255126 SCV000322172 pathogenic not provided 2015-10-29 criteria provided, single submitter clinical testing The R3481X variant in the DNAH5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R3481X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R3481X as a pathogenic variant.
Invitae RCV001216552 SCV001388355 pathogenic Primary ciliary dyskinesia 2019-06-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg3481*) 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 been observed in combination with another DNAH5 variant in an individual affected with primary ciliary dyskinesia (PMID: 25186273). ClinVar contains an entry for this variant (Variation ID: 265361). Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). For these reasons, this variant has been classified as Pathogenic.
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV001216552 SCV001431580 likely pathogenic Primary ciliary dyskinesia 2018-11-08 criteria provided, single submitter clinical testing

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