Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001543649 | SCV001762326 | uncertain significance | Phenylketonuria | 2019-12-15 | reviewed by expert panel | curation | The c.1019T>C (p.Ile340Thr) variant in PAH has been not been reported in a patient with PAH deficiency (to our knowledge). It was reported to the PAHdb (McGill) by Tyfield in 2003. This variant is absent from controls in ExAC, gnomAD, 1000 Genomes, and ESP. There are conflicting predictions of pathogenicity: SIFT (T); PolyPhen2 (B); REVEL=0.731; MutationTaster (D). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2. |
De |
RCV000088700 | SCV000119280 | not provided | not provided | no assertion provided | not provided |