Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001543653 | SCV001762330 | uncertain significance | Phenylketonuria | 2021-04-23 | reviewed by expert panel | curation | The c.1112A>G (p.Lys371Arg) variant in PAH has been reported in a patient with PKU (BH4 deficiency excluded) (PMID: 23430918, 9169088) detected with pathogenic variant IVS10-11G>A, parental analysis not reported PMID: 9169088. 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, PP3_supporting. |
De |
RCV000088760 | SCV000119344 | not provided | not provided | no assertion provided | not provided |