Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001210647 | SCV001382143 | pathogenic | CHARGE association | 2019-08-01 | criteria provided, single submitter | clinical testing | 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 has been observed in individuals undergoing testing for CHARGE syndrome (PMID: 22461308). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1475Glyfs*71) in the CHD7 gene. It is expected to result in an absent or disrupted protein product. |