ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.(?_-1)_8448+?dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000200418 SCV000253704 likely pathogenic Primary ciliary dyskinesia 2015-02-19 criteria provided, single submitter clinical testing This sequence change is a tandem duplication of the genomic region encompassing exons 1-50 of the DNAH5 gene. Sequencing data suggests that this duplication also includes the first exon of TRIO, the gene adjacent to DNAH5. This variant has not been published in the literature and gross duplications in DNAH5 have not been reported in PCD patients. However, because this duplication occurs in tandem it is expected to disrupt DNAH5 gene function, and loss of function variants in DNAH5 are known to be pathogenic (PMID: 16627867). For these reasons, this variant has been classified as Likely Pathogenic.

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