Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001269061 | SCV001448258 | pathogenic | Phenylketonuria | 2020-07-24 | reviewed by expert panel | curation | The c.912+1G>C variant in PAH is a canonical splice donor in which exon skipping disrupts the reading frame and is predicted to undergo nonsense mediated-decay. This variant was reported in 2 patients with PKU (PMID 25550961, 31332730). Additionally, this variant is absent from population databases. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, and PP4. |