ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.5710-2A>G (rs548521732)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532226 SCV000624274 pathogenic Primary ciliary dyskinesia 2020-06-27 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 34 of the DNAH5 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs548521732, ExAC 0.009%). This variant has been reported as in combination with another DNAH5 variant in several individuals affected with primary ciliary dyskinesia (PMID: 19357118, 27637300). ClinVar contains an entry for this variant (Variation ID: 454788). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and 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 RCV000763132 SCV000893690 pathogenic Ciliary dyskinesia, primary, 3 2018-10-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000532226 SCV001457358 pathogenic Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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