Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000555298 | SCV000624147 | pathogenic | Primary ciliary dyskinesia | 2017-04-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in DNAH11 are known to be pathogenic (PMID: 22184204). This sequence change deletes 38 nucleotides from exon 34 of the DNAH11 mRNA (c.5885_5922del), causing a frameshift at codon 1962. This creates a premature translational stop signal (p.Val1962Glufs*48) and is expected to result in an absent or disrupted protein product. |