Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000807220 | SCV000947263 | pathogenic | CHARGE association | 2018-08-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp2594*) in the CHD7 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CHD7 are known to be pathogenic (PMID: 22461308, 25077900). This nonsense change has been reported in an individual affected with Kallmann syndrome (PMID: 25077900). |