Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001388323 | SCV001589257 | pathogenic | Primary ciliary dyskinesia | 2022-06-13 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with primary ciliary dyskinesia (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys945Argfs*7) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). ClinVar contains an entry for this variant (Variation ID: 1074880). For these reasons, this variant has been classified as Pathogenic. |