Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001269040 | SCV001448231 | uncertain significance | Phenylketonuria | 2020-08-31 | reviewed by expert panel | curation | The c.1175T>C (p.Phe392Ser) variant in PAH was reported in one non-English article that is not accessible (PMID: 22333022). This variant is absent from population databases (PM2), and is predicted deleterious by SIFT, PolyPhen2, MutationTaster, and REVEL = 0.98 (PP3). This variant is same codon as F392I, reported as pathogenic in ClinVar (VarID:852581; 2 submitters) (PM5). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3, PM5 |
De |
RCV000088778 | SCV000119364 | not provided | not provided | no assertion provided | not provided |