Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000758117 | SCV000886594 | uncertain significance | Phenylketonuria | 2018-12-10 | reviewed by expert panel | curation | The c.802T>C (p.Tyr268His) variant in PAH has not been reported in the literature to our knowledge. The reference in BioPKU/PAHdb (Eisensmith, 1996) does not include this variant. It is absent from ExAC, 1000G, and ESP, with Extremely low frequency in gnomAD (0.000004063). A deleterious effect is predicted in SIFT, Polyphen2, MutationTaster, and REVEL=0.977. . In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3. |
De |
RCV000089100 | SCV000119707 | not provided | not provided | no assertion provided | not provided |