Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000555244 | SCV000624293 | pathogenic | Primary ciliary dyskinesia | 2023-01-19 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Glu2633Alafs*19) 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). This premature translational stop signal has been observed in individual(s) with primary ciliary dyskinesia (PMID: 25186273). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 454805). This variant is also known as 7897_7902delAGAG. |