Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000239826 | SCV000299144 | pathogenic | Primary ciliary dyskinesia | 2016-09-07 | criteria provided, single submitter | clinical testing | This variant is a complex sequence change that deletes exon 4 and the first few codons of exon 5, and inserts 15 nucleotides (c.278-226_443delinsTGTTTTCTTAAAACA). This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 16627867, 11788826). For these reasons, this variant has been classified as Pathogenic. |