Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001093519 | SCV001250554 | likely pathogenic | Phenylketonuria | 2020-01-29 | reviewed by expert panel | curation | The c.185T>C (p.Leu62Pro) variant in PAH has been reported in 1 individual with classic PKU (BH4 deficiency not assessed/reported). (PP4; PMID: 22513348). This variant is absent in population databases (PM2). This variant was detected with p.R408W (Pathogenic in ClinVar) (PM3; PMID: 22513348). Multiple lines of computational evidence support a deleterious effect (PP3). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PM3, PP3. |