Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NYU Undiagnosed Diseases Program, |
RCV001289994 | SCV001469007 | likely pathogenic | MEGF8-related Carpenter syndrome | criteria provided, single submitter | research | This variant is located at the last base of exon 4 (NM_001410.3) and causes the involved 5’ splice donor site to not function, based on in vitro analysis of RNA. The loss of this 5’ splice donor site led to activation of a cryptic 5’ splice donor site inside exon 4 that splices into the normal 3’ splice acceptor site of exon 5. The abnormal cryptic 5’ splice donor site inside exon 4 leads to loss of the last 88 bp of exon 4 in the transcript, and a predicted subsequent frameshift and early truncation of the protein. The annotation of this abnormal transcript is: NM_001410.3:c.1261_1348del; NP_001258867.1:p.Val218_Gly246del / p.Gly247AlafsTer26. |