Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000106392 | SCV001146710 | pathogenic | Phenylketonuria | 2019-04-03 | reviewed by expert panel | curation | The c.155delT (p.Leu52Cysfs) is a frameshift variant in exon 2 of 13 in PAH, predicted to undergo nonsense mediated decay with the truncated region critical to protein function. It has been reported in 1 individual with PKU (BH4 deficiency not excluded), who carried a second nonsense variant in PAH (PP4; PMID: 26666653 ). This variant is absent from population databases (PM2). In summary, this variant meets our criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PP4. |
Inserm U 954, |
RCV000106392 | SCV000143880 | not provided | Phenylketonuria | no assertion provided | not provided |