Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001200012 | SCV001370871 | uncertain significance | Phenylketonuria | 2020-03-07 | reviewed by expert panel | curation | The c.656T>C (p.Phe219Ser) variant in PAH has been reported in a Chinese patient with PAH deficiency (referred to as P219S, BH4 deficiency excluded, PMID 21307867). This variant is absent from population databases. Multiple lines of computational evidence support a deleterious effect . In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PP3. |