ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.9365del (p.Ala3121_Leu3122insTer) (rs1060501460)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490388 SCV000267293 likely pathogenic Ciliary dyskinesia, primary, 3 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000465747 SCV000546322 pathogenic Primary ciliary dyskinesia 2018-11-30 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 55 of the DNAH5 mRNA (c.9365delT), causing a frameshift at codon 3122. This creates a premature translational stop signal (p.Leu3122*) and 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 DNAH5 are known to be pathogenic (PMID: 16627867, 11788826). For these reasons, this variant has been classified as Pathogenic.

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