Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000707766 | SCV000836876 | pathogenic | Primary ciliary dyskinesia | 2018-01-22 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing part of exon 11 of the DNAH5 gene including the exon 11-intron 11 boundary (c.1481_c.1537-168del). This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with DNAH5-related 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. |