Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002260497 | SCV002540154 | uncertain significance | Phenylketonuria | 2022-03-13 | reviewed by expert panel | curation | The c.793T>C (p.Cys265Arg) variant in PAH is reported in at least 1 Chinese patient with PAH deficiency (BH4 deficiency ruled out, PMID: 23932990). It was detected in trans with a variant of unknown significance, p.Arg53His (PMID: 30050108). This variant is absent in population databases. Multiple lines of computational evidence support a deleterious effect. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3, PP4_moderate. |