Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000485763 | SCV000573083 | likely pathogenic | not provided | 2017-01-30 | criteria provided, single submitter | clinical testing | The c.414_417dupGAGC variant in the PPIB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.414_417dupGAGC variant causes a frameshift starting with codon Methionine 140, changes this amino acid to a Glutamic Acid residue, and creates a premature Stop codon at position 54 of the new reading frame, denoted p.Met140GlufsX54. This variant is predicted to cause loss of normal protein function through protein truncation. The c.414_417dupGAGC variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.414_417dupGAGC as a likely pathogenic variant. |