Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001388559 | SCV001589578 | pathogenic | Primary ciliary dyskinesia | 2020-03-15 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon(s) 18-21 of the DNAH8 gene. 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 DNAH8-related conditions. Loss-of-function variants in DNAH8 are known to be pathogenic (PMID: 24307375). For these reasons, this variant has been classified as Pathogenic. |