Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000818946 | SCV000959585 | pathogenic | CHARGE association | 2018-08-21 | 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 an individual undergoing testing for CHARGE syndrome (PMID: 21158681 ) and was also observed in an individual with clinical features CHARGE syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln297*) in the CHD7 gene. It is expected to result in an absent or disrupted protein product. |