Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001199977 | SCV001370799 | likely pathogenic | Phenylketonuria | 2020-03-16 | reviewed by expert panel | curation | The c.1043T>C (p.Leu348Pro) variant in PAH has been reported in a Chinese patient with PAH deficiency (BH4 deficiency excluded) (PMID: 23932990) This variant is absent from population databases. A deleterious effect is predicted in SIFT, Polyphen-2, MutationTaster, and REVEL=0.981. Another missense change at the same amino acid is pathogenic: p.Leu348Val Pathogenic by 7 submitters. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM5, PP3. |