Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001543642 | SCV001762315 | uncertain significance | Phenylketonuria | 2020-08-13 | reviewed by expert panel | curation | The c.1039C>T (p.Leu347Phe) variant in PAH has been reported twice in patients with PAH deficiency (BH4 deficiency excluded, PMID: 8659548, 21147011). 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: PP4_Moderate, PM2, PP3. |
De |
RCV000088719 | SCV000119299 | not provided | not provided | no assertion provided | not provided |