Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001200006 | SCV001370861 | uncertain significance | Phenylketonuria | 2020-05-14 | reviewed by expert panel | curation | The NM_000277.3:c.1132A>T (p.Thr378Ser) missense variant has been reported in one mild PKU patient (PMID: 10767174), with compound heterozygous genotype of Thr378Ser with Arg243Gln (ClinVar591; Pathogenic). This variant is absent from 1000G, ESP, and gnomAD databases. It is predicted not to a have damaging effect: SIFT: Tolerated, PolyPhen: Benign, MutationTaster: Polymorphism. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied:PM2, PM3_supporting, PP4_moderate, BP4. |
De |
RCV000088768 | SCV000119352 | not provided | not provided | no assertion provided | not provided |