Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000215186 | SCV000279552 | pathogenic | not provided | 2016-06-08 | criteria provided, single submitter | clinical testing | The c.1082_1083delAG pathogenic variant in the JAG1 gene causes a frameshift alteration that converts codon 361, normally represented by Glutamic amino acid, to a Valine residue and creates a premature Stop codon at position 15 of the new reading frame, denoted p.Glu361ValfsX15. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. |