Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000758114 | SCV000886590 | uncertain significance | Phenylketonuria | 2018-12-10 | reviewed by expert panel | curation | The c.176A>G (p.Asp59Gly) variant in PAH has not been reported in the literature to our knowledge. A reference from BioPKU/PAHdb is not located (Carducci C, 1999). It is absent from ExAC, gnomAD, 1000G, and ESP. There are conflicting predictions of pathogenicity: SIFT/Polyphen2: benign; MutationTaster: Damaging; REVEL=0.565. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2. |
De |
RCV000088858 | SCV000119453 | not provided | not provided | no assertion provided | not provided |