Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001269067 | SCV001448290 | likely pathogenic | Phenylketonuria | 2020-10-16 | reviewed by expert panel | curation | This c.1200-3T>G (aka IVS11-3T>G) intronic variant in PAH was reported in one patient with classic PKU, in trans with pathogenic variant p.Tyr204Cys. Patients with BH4 cofactor deficiency were excluded but only urinary pterin analysis was mentioned as a method of exclusion (PMID:28982351). According to in silico splicing predictions, this variant is probably damaging. The variant is absent from controls in population databases. In summary, this variant meets criteria to be classified as Likely Pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PP3, and PP4. |