Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000768445 | SCV001370840 | likely pathogenic | Phenylketonuria | 2020-06-26 | reviewed by expert panel | curation | The c.875C>T (p.Pro292Leu) variant in PAH has been reported in multiple individuals with mild PKU (BH4 deficiency excluded). (PMID: 26503515, 24705691, 29413232). This variant has extremely low frequency in gnomAD (MAF=0.00006). This variant was detected in trans with pathogenic variants c.913-7A>G (PMID: 26322415) and p.Arg243Gln (PMID: 31178897). Computational evidence support a deleterious effect. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3_strong, PP3. |
Biochemistry Laboratory of CDMU, |
RCV000768445 | SCV000899206 | pathogenic | Phenylketonuria | no assertion criteria provided | case-control |