Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001235991 | SCV001408702 | pathogenic | Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 2019-09-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GLI2 are known to be pathogenic (PMID: 20685856, 10725236, 15994174, 14581620). This variant has not been reported in the literature in individuals with GLI2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg264Valfs*74) in the GLI2 gene. It is expected to result in an absent or disrupted protein product. |