The c.913-3C>G variant in PAH is reported Likely Pathogenic in ClinVar (see variant ID 120294) by one laboratory, which states that it was found in a PKU patient but does not provide further information to support their classification. It does not appear to have been reported in the published literature. The variant is a non-canonical splice variant in PAH; it is predicted to result in altered splicing by relevant in-silico predictors, e.g., Human Splicing Finder, dbSNV ADA score 0.9997 (PP3). It is absent from ethnically diverse control databases, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3.