Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001269060 | SCV001448257 | likely pathogenic | Phenylketonuria | 2020-10-16 | reviewed by expert panel | curation | This c.543_545del (p.Glu182del) variant in PAH was reported in a patient with moderate PKU. BH4 enzyme deficiency was ruled out by analysis of urinary pterins and DHPR activity. This variant is observed with pathogenic variant c.611A>G, phase is unknown (PMID: 28754886). The variant is absent from controls in population databases. This in-frame deletion changes the protein length in a non-repeat region. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM4, PP4_moderate, and PM3_supporting. |