Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000806324 | SCV000946315 | pathogenic | Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome | 2018-12-11 | 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 been observed in an individual with clinical features of Greig cephalopolysyndactyly syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr478*) in the GLI3 gene. It is expected to result in an absent or disrupted protein product. |