ClinVar Miner

Submissions for variant NC_000005.10:g.(?_13765966)_(13769625_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001033003 SCV001196310 pathogenic Primary ciliary dyskinesia 2019-12-26 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 57-59 of the DNAH5 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been observed to be homozygous in an individual affected with primary ciliary dyskinesia (Invitae). 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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