Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001789818 | SCV002032203 | uncertain significance | Phenylketonuria | 2020-08-10 | reviewed by expert panel | curation | The c.983C>A (p.Thr328Asn) variant in PAH has been reported in a Chinese patient with PAH deficiency (BH4 deficiency excluded, PMID: 26503515). This variant is absent in 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. |