Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001789819 | SCV002032204 | likely pathogenic | Phenylketonuria | 2020-08-07 | reviewed by expert panel | curation | The c.730C>T (p.Pro244Ser) variant in PAH has been reported in 1 individual with classic PKU, detected in trans with pathogenic variant p.R158Q (PMID: 26542770). This variant is absent in population databases. Computational evidence supports a deleterious effect. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PM3, PP3. |