Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002259595 | SCV002540126 | likely pathogenic | Phenylketonuria | 2020-11-13 | reviewed by expert panel | curation | The c.746T>A (p.Leu249His) variant in PAH has been reported in 1 individual with mild PKU (PMID: 11360625). This variant is absent in population databases. This variant was detected with pathogenic variant p.R243Q (PMID: 16256386). Computational evidence supports a deleterious effect. Another missense change at the same amino acid (p.L249F) is interpreted as pathogenic by multiple submitters. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM5, PM3_supporting, PP3, PP4. |
De |
RCV000089077 | SCV000119683 | not provided | not provided | no assertion provided | not provided |