Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001789758 | SCV002032234 | pathogenic | Phenylketonuria | 2021-12-12 | reviewed by expert panel | curation | The c.598dup (p.Thr200fs) variant in PAH has been reported in 1 Chinese patient with classic PKU (Phe (>120uM); BH4 deficiency not excluded (PP4). This frameshift variant is predicted to undergo NMD, not located in last exon or last 50bp of preliminary exon. (Coding exon number 6 out of 13 coding exons; 6 out of total exons) (PVS1). This variant is absent from population databases (PM2). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PP4. |
De |
RCV000088997 | SCV000119601 | not provided | not provided | no assertion provided | not provided |