ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.13486C>T (p.Arg4496Ter) (rs200901816)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471460 SCV000546337 pathogenic Primary ciliary dyskinesia 2020-10-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg4496*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs200901816, ExAC 0.01%). This variant has been observed to segregate with primary ciliary dyskinesia (PMID: 16627867), and has also been reported in several individuals affected with primary ciliary dyskinesia (PMID: 19357118, 26139845). ClinVar contains an entry for this variant (Variation ID: 407248). Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000763130 SCV000893688 pathogenic Ciliary dyskinesia, primary, 3 2018-10-31 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000763130 SCV001439378 pathogenic Ciliary dyskinesia, primary, 3 2020-09-18 criteria provided, single submitter research ACMG codes:PVS1, PS4M, PM2, PM3
Natera, Inc. RCV000471460 SCV001462275 pathogenic Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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