Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001200016 | SCV001370878 | likely pathogenic | Phenylketonuria | 2020-06-01 | reviewed by expert panel | curation | The variant c.1228T>A (p.Phe410Ile) in PAH has been reported in 1 Danish patient with mild/moderate PKU (BH4 deficiency not excluded) (PMID: 26542770; PP4). This same patient carried this variant in trans with the previously reported c.1315+1G>A variant which has been reported as Pathogenic in ClinVar (PMID: 26542770; PM3). This variant is absent from population databases (PM2) and is predicted deleterious by SIFT, PolyPhen2, MutationTaster, and REVEL = 0.969 (PP3). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PP3, PP4. |