Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001199991 | SCV001370827 | uncertain significance | Phenylketonuria | 2020-04-03 | reviewed by expert panel | curation | The c.981T>G (p.Phe327Leu) variant in PAH has been reported in a German patient with classic PKU (BH4 deficiency excluded) (PMID: 9634518, 10394930) This variant is absent from population databases. Multiple lines of computational evidence support a deleterious effect. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PP3. |
De |
RCV000089189 | SCV000119805 | not provided | not provided | no assertion provided | not provided |