Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000758094 | SCV000886561 | likely pathogenic | Phenylketonuria | 2018-12-10 | reviewed by expert panel | curation | The c.739G>A (p.Gly247Ser) variant in PAH was reported in 1 patient with classical PKU, BH4 deficiency excluded. (PMID: 16256386, 25456745) It was detected with T200Nfs, (pathogenic per PAH VCEP). This variant is absent from ExAC, 1000G, gnomAD, and ESP. It is predicted deleterious in SIFT, Polyphen2, MutationTaster, and REVEL=0.981. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP4_Moderate, PM3, PP3. |
De |
RCV000089070 | SCV000119676 | not provided | not provided | no assertion provided | not provided |