Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001789826 | SCV002032226 | likely pathogenic | Phenylketonuria | 2020-01-21 | reviewed by expert panel | curation | The c.1105C>G (p.Leu369Val) variant in PAH has been reported in 2 individuals with mild HPA (BH4 deficiency excluded). (PP4_Moderate; PMID: 18299955). This variant is absent in population databases (PM2). This variant was detected with pathogenic variants p.T380M and p.V230I (Parental analysis not reported, PM3). Computational evidence is conflicting. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3. |
Baylor Genetics | RCV001789826 | SCV004201975 | likely pathogenic | Phenylketonuria | 2022-08-02 | criteria provided, single submitter | clinical testing |