Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002259593 | SCV002540135 | uncertain significance | Phenylketonuria | 2021-01-25 | reviewed by expert panel | curation | This c.743T>C (p.Leu248Pro) variant in PAH was reported in 1 patient with PAH deficiency (>600 μmol/L Phe, PMID: 8807319). Computational evidence for this missense variant is predicted to be damaging (SIFT), probably damaging (PolyPhen2), and disease-causing (MutationTaster). This variant is absent from population databases ExAC, gnomAD, 1000 Genomes, and ESP. In summary, this variant meets criteria to be classified as a variant of uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3, PP4. |
De |
RCV000089074 | SCV000119680 | not provided | not provided | no assertion provided | not provided |