Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001269316 | SCV001448667 | uncertain significance | Phenylketonuria | 2020-09-12 | reviewed by expert panel | curation | The c.441+5G>A variant in PAH is absent from population databases (PM2). It has been observed in at least one classic PKU patient with BH4 deficiency excluded (PMID: 18321666; PP4_moderate). The patient is compound heterozygous with pathogenic variant R158Q (ClinVar 587; PM3_supporting). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3_supporting, PP4_moderate. |