ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.9079C>T (p.Arg3027Ter)

gnomAD frequency: 0.00002  dbSNP: rs747550558
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243071 SCV001416204 pathogenic Primary ciliary dyskinesia 2020-03-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DNAH8 are known to be pathogenic (PMID: 24307375). This variant has not been reported in the literature in individuals with DNAH8-related conditions. This variant is present in population databases (rs747550558, ExAC 0.003%). This sequence change creates a premature translational stop signal (p.Arg3027*) in the DNAH8 gene. It is expected to result in an absent or disrupted protein product.

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