Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000758105 | SCV000886578 | uncertain significance | Phenylketonuria | 2018-12-09 | reviewed by expert panel | curation | The c.1099C>G (p.Leu367Val) variant in PAH is reported in 2 unrelated patients with PKU (from Italy and China). BH4 deficiencies were assessed in the Chinese patient. (PMID: 10693064, 26503515) It was detected in the Chinese patient with c.1174T>A (p.F392I) (not in ClinVar). This variant is absent in population databases. Computational evidence is conflicting. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2. |