ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.1089+1G>A (rs574586008)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694519 SCV000822969 pathogenic Primary ciliary dyskinesia 2017-11-29 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of the DNAH5 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. Truncating variants, including splice site variants, in DNAH5 are known to be pathogenic. This particular variant has been reported in an individual with primary ciliary dyskinesia (PMID: 19357118). Experimental studies have shown that this variant produces two abnormal transcripts in an in vitro splicing assay (PMID: 19357118). For these reasons, this variant has been classified as Pathogenic.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580126 SCV001809772 pathogenic not provided no assertion criteria provided clinical testing

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