Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000106366 | SCV000886586 | likely pathogenic | Phenylketonuria | 2018-12-10 | reviewed by expert panel | curation | The c.785T>G (p.Val262Gly) variant in PAH is observed in 1 patient with classic PKU. BH4 deficiencies were not assessed. It was detected with a known pathogenic variant p.F39L. PMID: 26666653. This variant is absent from ExAC, gnomAD, 1000G, and ESP. It is predicted deleterious in SIFT, Polyphen-2, MutationTaster, and REVEL=0.954. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PP4, PP3. |
Inserm U 954, |
RCV000106366 | SCV000143866 | probable-pathogenic | Phenylketonuria | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |