Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001789824 | SCV002032220 | uncertain significance | Phenylketonuria | 2021-05-15 | reviewed by expert panel | curation | The c.1204T>A (p.Phe402Ile) variant in PAH has been detected in 1 Japanese patient with mild HPA, BH4 deficiency excluded (PMID: 21307867). This variant is absent from population databases (PM2), and is predicted deleterious by SIFT, PolyPhen2, MutationTaster, and REVEL = 0.946 (PP3). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3, PP4_M. |