Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001269046 | SCV001448237 | likely pathogenic | Phenylketonuria | 2024-11-17 | reviewed by expert panel | curation | The c.1204T>G (p.Phe402Val) variant in PAH is currently unreported in the literature. This variant is absent from population databases (PM2_Supporting), and is predicted deleterious by SIFT, PolyPhen2, MutationTester, and REVEL = 0.973 (PP3_Strong). Other missense variants [c.1204T>C (p.Phe402Leu); c.1205T>G (p.Phe402Cys)] in the same codon have been classified as likely pathogenic by the ClinGen Phenylketonuria Variant Curation Expert Panel (PM5_Supporting). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2_Supporting, PP3_Strong, PM5_supporting. |