Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002259590 | SCV002540120 | likely pathogenic | Phenylketonuria | 2020-11-09 | reviewed by expert panel | curation | The c.719T>C (p.Phe240Ser) variant in PAH has been reported in 1 individual with classic PKU detected with pathogenic variant p.R261Q (PMID: 11139255). 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. |
De |
RCV000089053 | SCV000119658 | not provided | not provided | no assertion provided | not provided |