Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001200005 | SCV001370859 | uncertain significance | Phenylketonuria | 2020-04-17 | reviewed by expert panel | curation | The c.1312A>G (p.Asn438Asp) variant in PAH is not currently reported in the literature. This variant is absent from population databases (PM2). Computation evidence for this variant is conflicting. It is predicted damaging by SIFT, benign by PolyPhen2, disease causing by MutationTaster, and REVEL = 0.671. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2. |