Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000669099 | SCV001572856 | likely pathogenic | Phenylketonuria | 2020-07-23 | reviewed by expert panel | curation | The c.161T>C (p.Leu54Ser) variant in PAH is a missense variant that is predicted to be deleterious in multiple lines of computational evidence. This variant was reported in a Spanish patient with mild/moderate PKU. A defect in the synthesis or regeneration pathways of 6R-BH4 was ruled out by analyzing urinary pterin levels and measuring the dihydropteridine reductase activity (PMID: 27121329). This variant was detected in trans with pathogenic variant c.912+1G>A. It was found in extremely low frequency in gnomAD (MAF=0.00006). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP4 moderate, PM3, and PP3. |
Counsyl | RCV000669099 | SCV000793804 | uncertain significance | Phenylketonuria | 2017-11-14 | criteria provided, single submitter | clinical testing | |
De |
RCV000088843 | SCV000119436 | not provided | not provided | no assertion provided | not provided |