Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001200017 | SCV001370882 | likely pathogenic | Phenylketonuria | 2020-06-01 | reviewed by expert panel | curation | The c.1027T>G (p.Tyr343Asp) variant in PAH has been reported in 1 individual with mild PKU (BH4 deficiency excluded) detected in trans with p.S349P (PMID: 27121329). 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: PP4_Moderate, PM2, PM3, PP3. |
De |
RCV000088707 | SCV000119287 | not provided | not provided | no assertion provided | not provided |