ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.6273_6274delinsA (p.Glu2092fs)

dbSNP: rs1060501457
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477558 SCV000546312 pathogenic Primary ciliary dyskinesia 2016-12-06 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides and inserts 1 nucleotide in exon 38 of the DNAH5 mRNA (c.6273_6274delinsA), causing a frameshift at codon 2092. This creates a premature translational stop signal (p.Glu2092Asnfs*6) 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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