Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001543647 | SCV001762324 | likely pathogenic | Phenylketonuria | 2024-09-06 | reviewed by expert panel | curation | The c.1007A>G (p.Gln336Arg) variant in PAH has been reported in a Chinese patient with classical PKU, BH4 deficiency not assessed. It was detected with pathogenic variant p.R243Q, parental analysis not reported (PMID: 16256386). 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=0.958. 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 |
RCV000088697 | SCV000119277 | not provided | not provided | no assertion provided | not provided |