Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001375907 | SCV001572878 | uncertain significance | Phenylketonuria | 2021-03-21 | reviewed by expert panel | curation | The c.869A>G (p.His290Arg) variant in PAH has been reported in a Chinese patient PKU (PMID: 15300621) 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, PM2, PP3. |
De |
RCV000089144 | SCV000119755 | not provided | not provided | no assertion provided | not provided |