Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000673220 | SCV001146706 | pathogenic | Phenylketonuria | 2019-04-03 | reviewed by expert panel | curation | The c.127G>T (p.Glu43*) variant is a nonsense 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 2 individuals with PKU (BH4 deficiency not excluded). (PP4; PMID: 26503515). 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. |
Counsyl | RCV000673220 | SCV000798398 | likely pathogenic | Phenylketonuria | 2018-03-08 | criteria provided, single submitter | clinical testing | |
Juno Genomics, |
RCV000673220 | SCV005418085 | pathogenic | Phenylketonuria | criteria provided, single submitter | clinical testing | PM2+PVS1+PM3 |