ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001376959 SCV001574167 likely pathogenic Primary ciliary dyskinesia 2020-08-21 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DNAH5 gene (p.Arg4592*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 33 amino acids of the DNAH5 protein. This variant is present in population databases (rs758112779, ExAC 0.02%). This variant has been observed in combination with another DNAH5 variant in an individual affected with primary ciliary dyskinesia (Invitae). This variant disrupts a region of the protein in which other variant(s) (p.Cys4621Tyr) have been observed in individuals with DNAH5-related conditions (Invitae). This suggests that this may be a clinically significant region of the DNAH5 protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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