Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001789759 | SCV002032211 | likely pathogenic | Phenylketonuria | 2020-07-06 | reviewed by expert panel | curation | The c.649T>G (p.Cys217Gly) variant in PAH has been reported in 3 individuals with PAH deficiency (BH4 deficiency excluded). This variant is absent in population databases. This variant was detected with pathogenic variants: p.P281L (PMID: 8807319), IVS10-11G>A, and p.V245A (PMID: 27121329). Computational evidence is conflicting. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3_strong. |
De |
RCV000089021 | SCV000119626 | not provided | not provided | no assertion provided | not provided |