Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032864 | SCV001196171 | pathogenic | Primary ciliary dyskinesia | 2021-08-12 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 57-59 of the DNAH5 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). A similar copy number variant has been observed in individual(s) with primary ciliary dyskinesia (Invitae). For these reasons, this variant has been classified as Pathogenic. |