Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001543661 | SCV001762343 | likely pathogenic | Phenylketonuria | 2021-02-14 | reviewed by expert panel | curation | The c.1054G>C (p.Gly352Arg) variant in PAH has been reported in multiple individuals with classical and mild PKU (BH4 deficiency excluded) (PMID 9634518, 29316886, 30747360). This variant is absent in population databases. This variant was detected in trans with pathogenic variant p.Arg243Gln (PMID: 29316886). Computational evidence supports a deleterious effect. Another missense variant at the same amino acid, p.Gly352Cys, has no assertion in ClinVar. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3, PP3. |
De |
RCV000088727 | SCV000119309 | not provided | not provided | no assertion provided | not provided |