ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.4053+1G>T (rs1060501466)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469666 SCV000546334 likely pathogenic Primary ciliary dyskinesia 2016-05-12 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 25 of the DNAH5 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a DNAH5-related disease. In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in DNAH5 are known to be pathogenic (PMID: 16627867, 11788826). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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