Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001375884 | SCV001572840 | likely pathogenic | Phenylketonuria | 2020-11-16 | reviewed by expert panel | curation | This c.563G>T (p.Gly188Val) variant in PAH was reported in trans with pathogenic variant p.Val399= in 1 patient with PAH deficiency (>120 μmol/L Phe) (PMID: 28982351). Computational evidence for this missense variant is predicted to be damaging (SIFT), probably damaging (PolyPhen2), and disease-causing (MutationTaster). This variant is absent from population databases gnomAD, 1000 Genomes, and ESP. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PP3, PP4. |