Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001199979 | SCV001370806 | likely pathogenic | Phenylketonuria | 2020-06-15 | reviewed by expert panel | curation | The c.833C>G (p.Thr278Ser) variant in PAH has been reported in 1 individual with mild PKU (BH4 deficiency excluded), detected with pathogenic variant IVS4-1G>A (PMID: 15503242). This variant is absent in population databases. Computational evidence is conflicting. There is another missense variant at the same amino acid that is interpreted as pathogenic (p.T278I, Variant ID:102863). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3_supporting, PM5. |