Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000210788 | SCV001370870 | likely pathogenic | Phenylketonuria | 2020-03-07 | reviewed by expert panel | curation | The c.1172G>C (p.Ser391Thr) variant in PAH has been reported in at least one individual with MHP (BH4 deficiency excluded, PMID: 30747360, 29499199) in trans with pathogenic variant p.Val399= (PMID: 29316886). This variant is absent in population databases. Computational evidence is conflicting. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3. |
Department of Prenatal Diagnosis, |
RCV000210788 | SCV000266853 | likely pathogenic | Phenylketonuria | 2013-10-01 | no assertion criteria provided | clinical testing |