Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000758113 | SCV000886588 | likely pathogenic | Phenylketonuria | 2018-12-10 | reviewed by expert panel | curation | The c.224A>T (p.Asp75Val) variant in PAH is reported in 1 classic PKU patient. BH4 deficiency was excluded. It was detected in trans with a known pathogenic variant, p.R413P. (PMID: 26322415) This variant is absent from ExAC, gnomAD, 1000G, and ESP.Computational evidence is conflicting. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PP4_Moderate. |