Total submissions: 1
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. |