ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.5503C>T (p.Gln1835Ter) (rs761622153)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413667 SCV000490515 likely pathogenic not provided 2016-04-05 criteria provided, single submitter clinical testing The Q1835X 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 Q1835X 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. Therefore, we interpret Q1835X as a likely pathogenic variant.
Invitae RCV000539827 SCV000624269 uncertain significance Primary ciliary dyskinesia 2019-08-21 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DNAH5 gene (p.Gln1835*). This variant is present in population databases (rs761622153, ExAC 0.009%). This variant has not been reported in the literature in individuals with DNAH5-related conditions. ClinVar contains an entry for this variant (Variation ID: 372356). To date, this variant in exon 34 has only been observed in individuals who have a copy number gain of DNAH5 exon 1-50 (Invitae). In all individuals where phase was determined, the p.Gln1835* variant and the exon 1-50 copy number gain were on the same chromosome. As a result, it is unknown which copy of the DNAH5 gene this variant is located in, or how this variant impacts gene function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV001283848 SCV001520031 pathogenic Ciliary dyskinesia, primary, 3 2020-06-11 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV001283848 SCV001469281 uncertain significance Ciliary dyskinesia, primary, 3 2020-10-11 no assertion criteria provided clinical testing

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