Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000993599 | SCV001146690 | pathogenic | Phenylketonuria | 2019-08-11 | reviewed by expert panel | curation | Pathogenic: The c.48dup (p.D17*) variant has been reported in one individual with classic PKU, who carried a second pathogenic variant in PAH (p.L48S) (PM3, PP4; PMID: 18299955). This variant is absent from gnomAD, 1000 Genomes, and ESP databases (PM2). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM3-supporting, PM2, PP4. |
Baylor Genetics | RCV000993599 | SCV004209704 | pathogenic | Phenylketonuria | 2023-02-14 | criteria provided, single submitter | clinical testing |