Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554728 | SCV000660176 | pathogenic | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2023-09-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg2359Alafs*10) in the DNAH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH1 are known to be pathogenic (PMID: 27573432, 27798045). This variant is present in population databases (rs762545991, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 478376). For these reasons, this variant has been classified as Pathogenic. |