Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001543645 | SCV001762322 | uncertain significance | Phenylketonuria | 2021-06-11 | reviewed by expert panel | curation | The c.1030G>C (p.Gly344Arg) variant in PAH has been reported in 1 individual with with classic PKU, detected with pathogenic variant c.1315+1G>A (aka IVS12+1G>A, PMID: 23430918). This variant is absent in population databases. Multiple lines of computational evidence support a deleterious effect. Other missense changes at the same amino acid residue have been seen before (p.Gly344Val, p.Gly344Asp and p.Gly344Ser are likely pathogenic by PAH VCEP). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP3, PP4, PM2, PM3_supporting. |
De |
RCV000088711 | SCV000119291 | not provided | not provided | no assertion provided | not provided |