Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001543638 | SCV001762310 | likely pathogenic | Phenylketonuria | 2019-12-08 | reviewed by expert panel | curation | The c.850T>C (p.Cys284Arg) variant in PAH has been reported in 1 individual with classic PKU (BH4 deficiency excluded). (PP4_Moderate; PMID: 30050108). This variant is absent in population databases (PM2). This variant was detected in trans with pathogenic variant p.EX6-96A>G (VarID590; PM3). Computational evidence predicts a deleterious effect. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3, PP3. |
De |
RCV000089139 | SCV000119750 | not provided | not provided | no assertion provided | not provided |