Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000693970 | SCV000822394 | pathogenic | CHARGE association | 2018-01-22 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with CHD7-related disease. 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 variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr1499Tyrfs*3) in the CHD7 gene. It is expected to result in an absent or disrupted protein product. |