Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000549394 | SCV000630784 | pathogenic | Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome | 2016-07-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in GLI3 are known to be pathogenic (PMID: 15739154). This sequence change deletes 1 nucleotide from exon 13 of the GLI3 mRNA (c.1878delA), causing a frameshift at codon 626. This creates a premature translational stop signal (p.Lys626Asnfs*3) and is expected to result in an absent or disrupted protein product. |