Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001093512 | SCV001250544 | uncertain significance | Phenylketonuria | 2019-12-22 | reviewed by expert panel | curation | The c.1315+5G>C variant in PAH is absent from population databases (PM2) and human splice finder and MaxEnt Scan predict a deleterious effect on the WT donor splice site (PM3). It has been observed in at least 2 moderate or classic PKU patients with BH4 deficiency excluded (PMID: 30747360; PP4_moderate). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3, PP4_moderate. |