Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002509216 | SCV002818527 | likely pathogenic | Phenylketonuria | 2022-12-09 | reviewed by expert panel | curation | The NM_000277.3(PAH):c.1232C>A (p.Ser411Ter) variant in exon 12 of PAH is a nonsense variant predicted to cause a premature stop codon in biologically-relevant-exon 12/13 and is predicted to lead to nonsense mediated decay (PVS1). This variant is absent from gnomAD v2.1.1 (PM2). The variant has been reported in one patient in PMID: 17935162 however additional phenotype and genotype information was not specified. In summary, this variant meets the criteria to be classified as likely pathogenic for autosomal recessive phenylketonuria based on the ACMG/AMP criteria applied, as specified by the ClinGen PAH VCEP: PVS1, PM2. (PAH VCEP specifications version 1) |
De |
RCV000088810 | SCV000119400 | not provided | not provided | no assertion provided | not provided |