Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000106338 | SCV001370869 | uncertain significance | Phenylketonuria | 2020-04-10 | reviewed by expert panel | curation | The c.1004A>C (p.Lys335Thr) variant in PAH has not been reported in a patient to our knowledge. It was reported to BioPKU in 2013 by Namour B. This variant is absent in 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: PM2, PP3. |
Inserm U 954, |
RCV000106338 | SCV000143837 | probable-pathogenic | Phenylketonuria | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |