ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.8314C>T (p.Arg2772Ter) (rs781469274)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473928 SCV000546300 pathogenic Primary ciliary dyskinesia 2020-05-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2772*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs781469274, ExAC 0.02%). This particular variant has been reported in the literature in an individual affected with primary ciliary dyskinesia (PMID: 16627867). ClinVar contains an entry for this variant (Variation ID: 407217). Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000622411 SCV000742445 pathogenic Inborn genetic diseases 2017-05-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV000473928 SCV001452279 pathogenic Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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