Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001071422 | SCV001236726 | pathogenic | Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome | 2019-01-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GLI3 are known to be pathogenic (PMID: 10441570, 15739154, 18000979, 24736735). This variant has not been reported in the literature in individuals with GLI3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu31*) in the GLI3 gene. It is expected to result in an absent or disrupted protein product. |