Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001543646 | SCV001762323 | likely pathogenic | Phenylketonuria | 2024-09-06 | reviewed by expert panel | curation | The c.1001G>C (p.Cys334Ser) variant in PAH has been reported in 2 patients with mild PKU/HPA. (BH4 deficiency not ruled out. PMID: 8632937, 10693064). It was detected with pathogenic variant p.F299C (unknown phase). This variant is absent from controls in ExAC, gnomAD, 1000 Genomes, and ESP. A deleterious effect is predicted in SIFT, Polyphen-2, MutationTaster, and REVEL=0.976. In summary, this variant meets criteria to be classified as Likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2_supporting, PP3_strong, PP4, PM3_supporting. |
De |
RCV000088695 | SCV000119275 | not provided | not provided | no assertion provided | not provided |