Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000477558 | SCV000546312 | pathogenic | Primary ciliary dyskinesia | 2016-12-06 | criteria provided, single submitter | clinical testing | This sequence change deletes 2 nucleotides and inserts 1 nucleotide in exon 38 of the DNAH5 mRNA (c.6273_6274delinsA), causing a frameshift at codon 2092. This creates a premature translational stop signal (p.Glu2092Asnfs*6) 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. |