Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000993618 | SCV001146742 | uncertain significance | Phenylketonuria | 2019-03-23 | reviewed by expert panel | curation | The c.60G>C (p.Q20H) variant has been reported in 1 patient with PKU (not excluding BH4 deficiency), who carried 2 pathogenic variants (p.R158Q, p.R408W) in PAH (PMID: 18321666, PMID: 23430918). This variant is absent from population databases, including 1000 Genomes, ESP, and gnomAD. A deleterious effect is predicted in SIFT, Polyphen-2, MutationTaster, and REVEL=0.571. In summary, this variant meets our criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP3, PM2, PP4. |
De |
RCV000089006 | SCV000119610 | not provided | not provided | no assertion provided | not provided |