ClinVar Miner

Submissions for variant NC_000005.10:g.13886130C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208369 SCV001379752 likely pathogenic Primary ciliary dyskinesia 2019-06-25 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 17 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 an individual affected with primary ciliary dyskinesia (PMID: 29363216). 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). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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