Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000993625 | SCV001146753 | likely pathogenic | Phenylketonuria | 2019-04-03 | reviewed by expert panel | curation | The c.907T>C (p.Ser303Pro) variant in PAH has been reported in 1 affected individual (BH4 deficiency excluded). (PP4_Moderate; PMID: 9634518). This variant is absent in population databases (PM2). This variant was detected with p.D282G (LP via PAH workgroup) (PM3; PMID: 16256386). Computational evidence supports a deleterious effect (PP3). 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 |
RCV000089151 | SCV000119764 | not provided | not provided | no assertion provided | not provided |