ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.13069C>T (p.Arg4357Ter) (rs775720394)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538299 SCV000624103 pathogenic Primary ciliary dyskinesia 2017-03-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 4357 (p.Arg4357*) of the DNAH11 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in DNAH11 are known to be pathogenic (PMID: 22184204). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000987856 SCV001137336 pathogenic Ciliary dyskinesia, primary, 7 2019-05-28 criteria provided, single submitter clinical testing

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