Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000667507 | SCV001448284 | likely pathogenic | Phenylketonuria | 2020-10-16 | reviewed by expert panel | curation | The c.124_126del (p.Lys42del) PAH variant has been reported in 2 patients with PAH deficiency, detected with the pathogenic PAH variant p.Arg111Ter (PMID: 30050108) and the likely pathogenic PAH variant c.824C>T (PMID: 27243974). A defect in BH4 metabolism was not excluded. This variant is absent from population databases. The protein length changes as a result of an in-frame deletion in a non-repeat region. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3_strong, PM4, PP4. |
Counsyl | RCV000667507 | SCV000791969 | uncertain significance | Phenylketonuria | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000667507 | SCV004201961 | likely pathogenic | Phenylketonuria | 2022-11-14 | criteria provided, single submitter | clinical testing |