Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000534797 | SCV000630803 | pathogenic | Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome | 2016-05-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature. However a pathogenic frameshift variant (p.Thr1488Lysfs*23) occurs downstream of this frameshift (PMID: 24736735), which indicates truncation of the 3' end of the GLI3 protein is deleterious. This sequence change deletes 1 nucleotide from exon 15 of the GLI3 mRNA (c.4395delC), causing a frameshift at codon 1466. This creates a premature translational stop signal in the last exon of the GLI3 mRNA (p.Ser1466Alafs*22). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated GLI3 protein. |