ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.5647C>T (p.Arg1883Ter) (rs575017579)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494045 SCV000582720 pathogenic not provided 2015-09-23 criteria provided, single submitter clinical testing The R1883X variant in the DNAH5 gene has been reported previously in the homozygous state in an individual with PCD (Failly et al., 2009); it has also been observed in the heterozygous state without a second identifiable variant in an unrelated individual with PCD (Zariwala et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Numerous protein truncating variants downstream of R188X have been reported in the Human Gene Mutation Database in association with PCD (Stenson et al., 2014), supporting the pathogenicity of more upstream truncating variants. R1883X 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 R1883X as a pathogenic variant.
Invitae RCV000629506 SCV000750451 pathogenic Primary ciliary dyskinesia 2017-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1883*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs575017579, ExAC 0.02%). This variant has been reported in individuals with primary ciliary dyskinesia (PMID: 19357118, 23891469, 25186273, 27618201). 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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