ClinVar Miner

Submissions for variant NC_000005.10:g.(?_13830078)_(13842859_?)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 RCV001032324 SCV001195631 pathogenic Primary ciliary dyskinesia 2019-11-12 criteria provided, single submitter clinical testing This variant results in the deletion of exons 33-36 and part of exon 37 (c.5272-955_6197del) of the DNAH5 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been observed on the opposite chromosome (in trans) from another pathogenic variant in an individual affected with primary ciliary dyskinesia (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. 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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