Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001199980 | SCV001370807 | uncertain significance | Phenylketonuria | 2020-06-18 | reviewed by expert panel | curation | The c.871G>T (p.Val291Leu) variant in PAH has been reported in a Chinese patient with mild hyperphenylalaninemia (BH4 deficiency excluded) (PMID: 26503515, 29499199) This variant is absent from population databases. A deleterious effect is predicted by multiple lines of computational evidence. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PP3. |