Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001200004 | SCV001370858 | likely pathogenic | Phenylketonuria | 2020-04-13 | reviewed by expert panel | curation | The c.1046C>A (p.Ser349Ter) variant in PAH is a null variant (nonsense variant) in exon 10 of 13 in a gene where LOF is a known mechanism of disease, leading to premature truncation and NMD (PVS1). It is absent from ethnically diverse control databases, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2). It has previously been reported in one classic PKU case per the BioPKU database (PMID: 24939588), without additional information. Classification: Likely Pathogenic Supporting criteria: PVS1, PM2 |
De |
RCV000088722 | SCV000119304 | not provided | not provided | no assertion provided | not provided |