Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000674226 | SCV001762332 | uncertain significance | Phenylketonuria | 2021-06-11 | reviewed by expert panel | curation | The c.1031G>T (p.Gly344Val) variant in PAH has been reported in 2 siblings with classic PKU, detected with pathogenic variant p.R243Q. (PMID: 10679941). 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.Gly344Asp, p.Gly344Ser and p.Gly344Arg 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: PM2, PM3_supporting, PP3, PP4. |
Counsyl | RCV000674226 | SCV000799528 | uncertain significance | Phenylketonuria | 2018-04-24 | criteria provided, single submitter | clinical testing | |
De |
RCV000088713 | SCV000119293 | not provided | not provided | no assertion provided | not provided |