Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002260492 | SCV002540134 | uncertain significance | Phenylketonuria | 2021-01-15 | reviewed by expert panel | curation | This c.667A>T (p.Asn223Tyr) variant in PAH was reported with pathogenic variant c.165delT in a patient with PAH deficiency (242 μmol/L Phe) (PMID 18346471). Computational evidence for this missense variant is predicted to be damaging (SIFT), probably damaging (PolyPhen2), and disease causing (MutationTaster). This variant is absent from population databases ExAC, gnomAD, 1000 Genomes, and ESP. In summary, this variant meets criteria to be classified as a variant of uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3, PP4, PM3_supporting. |