Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001789761 | SCV002032217 | uncertain significance | Phenylketonuria | 2020-08-20 | reviewed by expert panel | curation | The c.689T>G (p.Val230Gly) variant in PAH was reported to the McGill PAHdb by Carducci in 1999, but has not been found in the literature. 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: PM2, PP3. |
De |
RCV000089036 | SCV000119641 | not provided | not provided | no assertion provided | not provided |