Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003479003 | SCV004222638 | pathogenic | Phenylketonuria | 2023-10-15 | reviewed by expert panel | curation | The c.810_814del (p.His271fs) variant in PAH has been reported in 1 Czech PKU patient; plasma Phe >20mg/100ml; BH4 deficiency not excluded (PMID: 9391881; PP4). This frameshift variant is predicted to undergo NMD, not located in last exon or last 50bp of preliminary exon (Coding exon number 7 out of 13 coding exons; 7 out of total exons) (PVS1). This variant is absent from population databases (PM2_supporting). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2_supporting, PP4. |
De |
RCV000089107 | SCV000119714 | not provided | not provided | no assertion provided | not provided |