Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000993638 | SCV001146770 | uncertain significance | Phenylketonuria | 2019-04-03 | reviewed by expert panel | curation | The c.842+6T>A PAH variant has been identified in at least one patient with hyperphenylalaninemia (PMID: 10429004). Serum phenylalanine was considered severe in this patient (>28mg/dl), however without indication of a second PAH variant. This variant is absent from 1000G, ESP, and gnomAD databases. It is intronic in a highly conserved nucleotide, and computation analysis predict a reduction in splicing at the donor site of intron 7. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP3, PP4, PM2. |