Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002259587 | SCV002540148 | likely pathogenic | Phenylketonuria | 2021-12-16 | reviewed by expert panel | curation | The c.329C>T (p.Ser110Leu) variant in PAH has been reported in one individual with mild hyperphenylalanemia, in trans to c.842C>T (p.Pro281Leu) (Likely pathogenic by PAH VCEP variation ID: 589) with exclusion of BH4 deficiency (PMID: 16051511, PMID: 12618080). It has also been observed in an additional patient with hyperphenylalanemia without specified exclusion of BH4 deficiency (PMID: 26542770). In-vitro functional studies are unavailable. This variant is absent from population databases. In-silico predictions yield conflicting results regarding the pathogenicity of this variant. In summary, this variant meets criteria to be classified as Likely Pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM3, PP4_moderate, PM2. |
De |
RCV000088897 | SCV000119495 | not provided | not provided | no assertion provided | not provided |