Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001009295 | SCV001169118 | likely pathogenic | not provided | 2019-02-28 | criteria provided, single submitter | clinical testing | The c.1214_1215delCGinsT variant in the AIRE gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1214_1215delCGinsT variant causes a frameshift starting with codon Proline 405, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 75 of the new reading frame, denoted p.Pro405LeufsX75. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1214_1215delCGinsT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1214_1215delCGinsT as a likely pathogenic variant. |