Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000461675 | SCV000546396 | pathogenic | Primary ciliary dyskinesia | 2022-08-09 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 407300). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. This variant is present in population databases (rs766256391, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Trp2622*) in the DNAH8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH8 are known to be pathogenic (PMID: 24307375, 32619401, 32681648). |