ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.12238G>T (p.Glu4080Ter)

dbSNP: rs142761474
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001390156 SCV001591792 pathogenic Primary ciliary dyskinesia 2020-03-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with DNAH5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu4080*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product.

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