Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001543651 | SCV001762328 | uncertain significance | Phenylketonuria | 2019-12-15 | reviewed by expert panel | curation | The c.1022A>G (p.Lys341Arg) variant in PAH has not been reported in a patient with PAH deficiency (to our knowledge). It was submitted to the PAHdb/McGill by Cadiou in 1994. This variant is absent from controls in ExAC, gnomAD, 1000 Genomes, and ESP. There are conflicting interpretations of pathogenicity: SIFT (T); PolyPhen2 (P); MutationTaster (D), REVEL=0.831. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2. |
De |
RCV000088703 | SCV000119283 | not provided | not provided | no assertion provided | not provided |