Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001543648 | SCV001762325 | uncertain significance | Phenylketonuria | 2019-12-15 | reviewed by expert panel | curation | The c.1010G>T (p.Gly337Val) variant in PAH has been reported in a patient with PKU, BH4 deficiency not assessed. (PMID: 9012412) This variant is absent from controls in ExAC, gnomAD, 1000 Genomes, and ESP. Computational evidence is conflicting (Deleterious effect predicted in SIFT, MutationTaster, REVEL=0.816. PolyPhen2 HVAR predicts benign). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2 |
De |
RCV000088698 | SCV000119278 | not provided | not provided | no assertion provided | not provided |