Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001199981 | SCV001370808 | likely pathogenic | Phenylketonuria | 2020-06-18 | reviewed by expert panel | curation | The c.1027T>A (p.Tyr343Asn) variant in PAH has been reported in multiple individuals with PKU (PMID: 10356314) detected with pathogenic variants p.R158Q and p.E280K. This variant is absent in population databases. Computational evidence supports a deleterious effect. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PP3, PP4. |