ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.6343del (p.Ile2114_Ile2115insTer) (rs1474945018)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531317 SCV000624277 pathogenic Primary ciliary dyskinesia 2020-08-25 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 38 of the DNAH5 mRNA (c.6343delA), causing a frameshift at codon 2115. This creates a premature translational stop signal (p.Ile2115*) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH5 are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with primary ciliary dyskinesia (PMID: 25186273). For these reasons, this variant has been classified as Pathogenic.

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