ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.3598+2T>C (rs981267400)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623850 SCV000741044 pathogenic Inborn genetic diseases 2015-10-05 criteria provided, single submitter clinical testing
Invitae RCV001234224 SCV001406858 pathogenic Primary ciliary dyskinesia 2020-09-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 23 of the DNAH5 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another DNAH5 variant individuals affected with primary ciliary dyskinesia (PMID: 30067075, Invitae). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). For these reasons, this variant has been classified as Pathogenic.

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