Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000119826 | SCV001250534 | uncertain significance | Phenylketonuria | 2019-05-04 | reviewed by expert panel | curation | The c.781C>G (p.Arg261Gly) variant in PAH has not been reported in the literature (to our knowledge). This variant is at extremely low frequency in gnomAD (MAF=0.00006, PM2). A deleterious effect is predicted in SIFT, Polyphen-2, MutationTaster, and REVEL=0.962. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3. |
Inserm U 954, |
RCV000119826 | SCV000154752 | probable-pathogenic | Phenylketonuria | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |