Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000758095 | SCV000886562 | uncertain significance | Phenylketonuria | 2018-12-10 | reviewed by expert panel | curation | The c.184C>G (p.Leu62Val) variant in PAH is reported in a Chinese PAH patient. BH4 deficiency was excluded. (PMID: 23932990) This variant is absent from ExAC, gnomAD, 1000G, and ESP. Computational evidence is conflicting. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP4. |