ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.8167C>T (p.Gln2723Ter) (rs1309660408)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823387 SCV000964246 pathogenic Primary ciliary dyskinesia 2019-06-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2723*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another DNAH5 variant in individuals affected with primary ciliary dyskinesia (PMID: 16627867, Invitae). Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000823387 SCV001452280 pathogenic Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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