Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001375896 | SCV001572859 | uncertain significance | Phenylketonuria | 2020-12-11 | reviewed by expert panel | curation | The c.969+4A>T PAH variant has been reported in 1 Northwest Chinese patient with PAH deficiency (Phe ≥ 1200 μmol/L) (PMID: 30747360). A defect in BH4 metabolism was excluded through a BH4 loading test, urinary pterin analysis, and DHPR activity assay. This variant is absent from population databases gnomAD, 1000 Genomes and ESP. Splicing prediction algorithms predict this variant to be probably damaging. In summary, this variant meets criteria to be classified as a variant of uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP4_moderate, PP3. |