Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Leeds Amelogenesis Imperfecta Research Group, |
RCV000519434 | SCV000537162 | pathogenic | Amelogenesis imperfecta type 1A | 2017-03-01 | no assertion criteria provided | research | The c.3383-1G>A (NM_000228.2) variant affects the G of the conserved AG splice acceptor. Investigation of splicing by RT-PCR found that the variant leads to inclusion of intron 22 in the transcript, which is predicted to escape nonsense mediated decay and when translated is predicted to lead to the production of a premature termination codon p.(D1128Gfs*6) (NP_000219.2). |